ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2320del (p.Tyr774fs)

dbSNP: rs2125881165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702304 SCV002762159 likely pathogenic not provided 2022-06-07 criteria provided, single submitter clinical testing Reported in individuals with Brugada syndrome and/or progressive cardiac conduction disease (Meregalli et al., 2009; Wijeyeratne et al., 2020); Frameshift 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33164571, 19251209)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702304 SCV001929274 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702304 SCV001957560 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001702304 SCV002034590 pathogenic not provided no assertion criteria provided clinical testing

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