Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169169 | SCV000220400 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2015-02-05 | criteria provided, single submitter | literature only | |
Eurofins NTD LLC |
RCV000711350 | SCV000700277 | pathogenic | not provided | 2012-08-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000609278 | SCV000710859 | pathogenic | Rare genetic deafness | 2016-11-30 | criteria provided, single submitter | clinical testing | The p.Val13fs variant in GJB2, also reported as c.35dupG or c.35insG, has been r eported in >5 individuals with hearing loss who were compound heterozygous for a second pathogenic variant in GJB2 (Estivill 1998, Huang 2014, Snoeckx 2005, Tsu kada 2010). It has been identified in 6/250260 of the total chromosomes in the genome Aggregation Database (http://gnomad.broadinstitute.org/, dbSNP rs39812381 4). This low frequency in the general population is consistent with the carrier frequency for autosomal recessive hearing loss. This variant is predicted to ca use a frameshift, which alters the protein?s amino acid sequence beginning at po sition 13 and leads to a premature termination codon 35 amino acids downstream. In summary, this variant meets criteria to be classified as pathogenic for autos omal recessive hearing loss based on the predicted impact to the protein and mul tiple previously reported affected compound heterozygotes. |
Athena Diagnostics Inc | RCV000711350 | SCV000841705 | pathogenic | not provided | 2017-10-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000169169 | SCV000919430 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2021-02-09 | criteria provided, single submitter | clinical testing | Variant summary: GJB2 c.35dupG (p.Val13CysfsX35) results in a premature termination codon, predicted to cause a truncation, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 2.4e-05 in 249362 control chromosomes (gnomAD). c.35dupG has been reported in the literature in several individuals affected with Autosomal Recessive Non-Syndromic Hearing Loss (e.g. Rabionet_2000, D'Andrea_2002, Dai_2009, Hjelm_2010, Godbole_2010, Bazazzadegan_2012, Usami_2012, Banjara_2015, Liu_2020). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eight other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as pathogenic. |
Ce |
RCV000711350 | SCV001148928 | uncertain significance | not provided | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711350 | SCV001168043 | pathogenic | not provided | 2022-10-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 214 amino acids are replaced with 34 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 9482292, 29754767, 31589614, 31541171, 29871260, 32645618, 31160754, 34416374, 23638949, 20639189, 24503448) |
Invitae | RCV000711350 | SCV001400140 | pathogenic | not provided | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV000711350 | SCV001448869 | pathogenic | not provided | 2016-11-23 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000711350 | SCV001480167 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375474 | SCV001572147 | likely pathogenic | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PVS1_Strong, PM2_Moderate, BP5_Supporting |
Clinical Molecular Genetics Laboratory, |
RCV000678861 | SCV000805054 | pathogenic | Hearing loss | 2009-01-22 | no assertion criteria provided | clinical testing | |
Genetic Testing Center for Deafness, |
RCV000169169 | SCV000902319 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2019-02-26 | no assertion criteria provided | case-control | |
Wang |
RCV000169169 | SCV001762422 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2021-07-01 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000169169 | SCV002086072 | pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2020-10-24 | no assertion criteria provided | clinical testing |