Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
INGEBI, |
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). |