ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) (rs786204491)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000169160 SCV000599743 pathogenic Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000809748 SCV000949922 pathogenic not provided 2020-03-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GJB2 gene (p.Tyr97*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 130 amino acids of the GJB2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with non-syndromic hearing loss (PMID: 11584050, 22695344, 15070423, 19371219). ClinVar contains an entry for this variant (Variation ID: 188821). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000809748 SCV001447331 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000809748 SCV001448949 pathogenic not provided 2019-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000809748 SCV001805050 pathogenic not provided 2020-10-28 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 130 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 31589614, 32747562, 15070423, 28405014, 24529908, 19371219, 17935238, 25560255, 11584050, 22695344, 22000900, 25012701, 15488970, 24039984)
Counsyl RCV000169160 SCV000220387 pathogenic Deafness, autosomal recessive 1A 2018-02-28 no assertion criteria provided clinical testing

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