ClinVar Miner

Submissions for variant NC_012920.1:m.1555A>G (rs267606617)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211153 SCV000268276 drug response aminoglycoside antibacterials response - Toxicity/ADR 2018-03-19 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PharmGKB RCV000660801 SCV000783040 drug response amikacin response - Toxicity/ADR 2018-03-19 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PharmGKB RCV000660802 SCV000783041 drug response gentamicin response - Toxicity/ADR 2018-03-19 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PharmGKB RCV000660803 SCV000783042 drug response kanamycin response - Toxicity/ADR 2018-03-19 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PharmGKB RCV000660804 SCV000783043 drug response neomycin response - Toxicity/ADR 2018-03-19 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PharmGKB RCV000660805 SCV000783044 drug response streptomycin response - Toxicity/ADR 2018-03-19 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
PharmGKB RCV000660806 SCV000783045 drug response tobramycin response - Toxicity/ADR 2018-03-19 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Annotation for a variant-drug combination where the preponderance of evidence shows an association. The association must be replicated in more than one cohort with significant p-values, and preferably will have a strong effect size.
Laboratory for Molecular Medicine,Partners HealthCare 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 Deafness, nonsyndromic sensorineural, mitochondrial 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 Deafness, nonsyndromic sensorineural, mitochondrial 2018-06-14 no assertion criteria provided literature only
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505667 SCV000599977 pathogenic Aminoglycoside-induced deafness; Deafness, nonsyndromic sensorineural, mitochondrial 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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