ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter)

dbSNP: rs1555627108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522159 SCV000621622 likely pathogenic not provided 2019-09-09 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001858038 SCV002238654 pathogenic Arrhythmogenic right ventricular dysplasia 10 2021-10-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 452787). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu343*) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 23381804, 23911551).

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