ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.32_45del (p.Gly11fs)

gnomAD frequency: 0.00001  dbSNP: rs1290698257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761850 SCV000892055 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000761850 SCV001379483 pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GJB2 protein in which other variant(s) (p.Thr18Lysfs*26) have been determined to be pathogenic (PMID: 10982182). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 623824). This variant has not been reported in the literature in individuals affected with GJB2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly11Alafs*32) in the GJB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 216 amino acid(s) of the GJB2 protein.

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