ClinVar Miner

Submissions for variant NC_012920.1:m.1555A>G

dbSNP: rs267606617
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV001787321 SCV000268276 drug response aminoglycoside antibacterials response - Toxicity 2021-06-15 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
PharmGKB RCV001787374 SCV002031224 drug response gentamicin response - Toxicity 2021-06-15 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
PharmGKB RCV001787375 SCV002031225 drug response amikacin response - Toxicity 2021-06-15 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
PharmGKB RCV001787376 SCV002031226 drug response kanamycin response - Toxicity 2021-06-15 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
PharmGKB RCV001787377 SCV002031227 drug response streptomycin response - Toxicity 2021-06-15 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
PharmGKB RCV001787378 SCV002031228 drug response tobramycin response - Toxicity 2021-06-15 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000844677 SCV000205457 pathogenic Rare genetic deafness 2013-04-29 criteria provided, single submitter clinical testing The m.1555A>G variant in MTRNR1 has been reported in many individuals with heari ng loss (often after exposure to aminoglycosides) and segregated in many affecte d matrilineal relatives (Prezant 1993, Pandya 1997, Usami 1997). The variant ha s been identified in 0.6-12% of hearing impaired individuals (Chen 2011, Yelvert on 2013), in contrast to 0.1-0.3% of the general population (Bitner-Glindzicz 20 09, Rahman 2012, Wang 2011, Wu 2011). Individuals with this variant usually pass newborn hearing screen, but develop aminoglycoside-induced or late-onset progre ssive hearing loss (Usami 2000, Lu 2009, Lu 2010). The penetrance is incomplete, but higher with aminoglycoside exposure than without, and the clinical manifest ation is influenced by the degree of heteroplasmy, environmental factors, haplog roup background, and other genetic modifiers (Lu 2010). This variant is in a reg ion of the 12S rRNA gene in which aminoglycosides are known to bind, and in whic h aminoglycoside resistance mutations have been described in other species. Alt hough this variant is present in other primate species, it has been shown that c ells with this variant are susceptible to aminoglycosides (Pacheu-Grau 2011). I n summary, this variant meets criteria to be classified as pathogenic based upon the over-representation of the variant in individuals with aminoglycoside-induc ed hearing loss, segregation in affected matrilineal relatives, and functional s tudies. ACMG/AMP Criteria applied: PS4, PP1_Strong, PS3_Supporting
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224935 SCV000280682 pathogenic not provided 2014-08-26 criteria provided, single submitter clinical testing
Medical Genetics Summaries RCV000722074 SCV000853256 drug response Gentamicin response 2018-08-01 criteria provided, single submitter curation Individuals who have the m.1555A>G variant are at risk of gentamicin-induced hearing loss. A single, therapeutic, dose of gentamicin may result in moderate to profound hearing loss that is bilateral and irreversible.
OMIM RCV000010254 SCV000030478 pathogenic Aminoglycoside-induced deafness 2008-12-26 no assertion criteria provided literature only
OMIM RCV000010255 SCV000030479 pathogenic Mitochondrial non-syndromic sensorineural hearing loss 2008-12-26 no assertion criteria provided literature only
OMIM RCV000010256 SCV000030480 pathogenic Restrictive cardiomyopathy 2008-12-26 no assertion criteria provided literature only
GeneReviews RCV000010255 SCV000172231 pathogenic Mitochondrial non-syndromic sensorineural hearing loss 2018-06-14 no assertion criteria provided literature only
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505667 SCV000599977 pathogenic Aminoglycoside-induced deafness; Mitochondrial non-syndromic sensorineural hearing loss 2014-02-27 no assertion criteria provided research This variant has been previously reported as disease-causing. It was an incidental finding in our study, in a 4-month-old female with kaposiform hemangioendothelioma. There was 65% heteroplasmy, and it was not detected in the mother, although heteroplasmy below 20% may not be detectable.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000010254 SCV000993414 drug response Aminoglycoside-induced deafness 2018-09-25 no assertion criteria provided research

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