ClinVar Miner

Submissions for variant m.1095T>C (rs267606618)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035031 SCV000058671 uncertain significance not specified 2019-02-04 criteria provided, single submitter clinical testing The m.1095T>C variant has been reported in 24/2455 individuals with hearing loss , with and without aminoglycoside exposure (Thyagarajan 2000, Tessa 2001, Zhao 2 004, Wang 2005, Li 2005, Dai 2006, Lu 2010, Shen 2001). In one Italian family w ith Parkinsonism, deafness and neuropathy, the variant segregated with hearing l oss in at least two additional maternally related family members (Thyagaragan 20 00), while in another family the variant segregated with nonsyndromic hearing lo ss in 4 family members (Tessa 2001), though alternate dominant inheritance canno t be ruled out. In addition, two functional studies shown that the 1095T>C varia nt impacts function (Thyagarajan 2000, Muderman 2012). Furthermore, a meta-analy sis from several studies of mitochondrial hearing loss variants detected in hear ing loss cohorts suggests that the m.1095T>C variant has a significant associati on with hearing loss when aminoglycosidase exposure was assessed. However, this variant is reported in 0.12% (58/47,412) individuals in a broad population datab ase (https://www.mitomap.org), and was a defining variant of the M11 haplogroup where it is present in 100% of individuals of that haplogroup (Tanaka 2004, Yao 2006). In summary, there is some evidence suggesting that the m.1095T>C variant may be associated with hearing loss, particularly with aminoglycosidase exposur e, however because of its frequency in the general population and the M11 haplog roup, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PS4_Moderate, PP1, PS3_Supporting, BS1_Supporting.
OMIM RCV000010259 SCV000030483 pathogenic Aminoglycoside-induced deafness 2008-12-26 no assertion criteria provided literature only
OMIM RCV000010260 SCV000030484 pathogenic Deafness, nonsyndromic sensorineural, mitochondrial 2008-12-26 no assertion criteria provided literature only
OMIM RCV000010261 SCV000030485 pathogenic Auditory neuropathy 2008-12-26 no assertion criteria provided literature only
PharmGKB RCV000211239 SCV000268277 drug response aminoglycoside antibacterials response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660807 SCV000783046 drug response amikacin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660808 SCV000783047 drug response gentamicin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660809 SCV000783048 drug response kanamycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660810 SCV000783049 drug response neomycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660811 SCV000783050 drug response streptomycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000660812 SCV000783051 drug response tobramycin response - Toxicity/ADR 2017-05-19 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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