ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1268045311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
INGEBI, INGEBI / CONICET RCV001251624 SCV001427358 likely pathogenic Nonsyndromic genetic hearing loss 2020-08-04 criteria provided, single submitter clinical testing Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: The c.632G>A, p.(Cys211Tyr) variant is absent from population databases (gnomAD, GO-ESP, 1000 genomes) meeting PM2 criteria. It has been identified in trans with del(GJB6-D13S1830) variant in two siblings with moderate postlingual hearing loss. There was an unaffected brother who only carried the p.(Cys211Tyr) variant (PMID: 24158611; PM3, PP1_Supporting). Finally, computational evidence predicted a pathogenic effect of the mutation to the protein (REVEL: 0.970) applying to PP3. In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive non-syndromic hearing loss (PM2, PM3, PP1_Supporting and PP3).

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