ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.514del (p.Trp172fs)

dbSNP: rs1057517508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411799 SCV000487657 likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A 2016-07-08 criteria provided, single submitter clinical testing
Counsyl RCV000409815 SCV000487658 likely pathogenic Autosomal dominant nonsyndromic hearing loss 3A 2016-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861403 SCV002179065 pathogenic not provided 2020-11-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the GJB2 protein. Other variant(s) that disrupt this region (p.Cys211Leufs*5) have been determined to be pathogenic (PMID: 9529365, 12910486, 20863150). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with GJB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 371755). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp172Glyfs*24) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the GJB2 protein.

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