ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.113G>A (p.Gly38Asp)

dbSNP: rs1391189162
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808165 SCV002058713 uncertain significance Autosomal dominant nonsyndromic hearing loss 9 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with COCH related disorder (PMID:23990876, PS1_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.721, PP3_P).Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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