ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.342del (p.Lys115fs)

dbSNP: rs748575478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000993968 SCV001147225 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479163 SCV002790734 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1 2022-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993968 SCV003277533 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 806107). This variant has not been reported in the literature in individuals affected with GJB3-related conditions. This variant is present in population databases (rs748575478, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Lys115Serfs*153) in the GJB3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 156 amino acid(s) of the GJB3 protein.

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