Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037848 | SCV000061510 | likely benign | not specified | 2007-02-21 | criteria provided, single submitter | clinical testing | |
INGEBI, |
RCV001257147 | SCV001433663 | likely benign | 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.384C>T p.(Ile128=) variant in GJB2 gene is absent from population databases (gnomAD, GO-ESP, 1000 genomes) meeting PM2 criteria. This variant has been detected in a heterozygous state in two hearing impaired patients (PMID:928500, 11102979). In a previous report we detected the p.Ile128= variant in cis with a pathogenic variant (PMID: 24158611). Since the cause of the hearing loss was the c.[35delG];[167delT] genotype, the p.(Ile128=) change is in cis with one of these alleles applying to BP2 rule. Computational evidence predicted that the mutation is not conserved between species (GERPscore:-1.12; BP4) and there is no impact on splicing (analyzed with Human Splicing Finder) meeting BP7 rule. Therefore, this variant meets criteria to be classified as likely benign for autosomal recessive non-syndromic hearing loss (PM2, BP2, BP4 and BP7). |
Labcorp Genetics |
RCV001425886 | SCV001628524 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |