ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.569T>A (p.Val190Asp)

dbSNP: rs1959056079
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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 RCV001257050 SCV001433601 uncertain significance Nonsyndromic genetic hearing loss 2020-08-31 criteria provided, single submitter clinical testing Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the c.569T>A, p.(Val190Asp) variant in GJB2 gene is absent from population database gnomAD, GO-ESP, 1000 genomes) meeting PM2 criteria. It has been identified in trans with c.35delG variant in a patient with profound hearing loss (PMID: 24158611) meeting PM3 rule. Computational evidence predicted a pathogenic effect of the mutation (REVELscore: 0.970) applying to PP3 criteria. Therefore, the clinical significance of this variant is currently uncertain: (PM2, PM3 and PP3).

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