ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.3946C>T (p.Arg1316Ter) (rs1553695764)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590334 SCV000700028 likely pathogenic Brugada syndrome (shorter-than-normal QT interval) 2016-12-12 criteria provided, single submitter clinical testing Variant summary: The SCN5A c.3946C>T (p.Arg1316X) variant results in a premature termination codon, predicted to cause a truncated or absent SCN5A protein due to nonsense mediated decay. The variant of interest was not found in controls (ExAC, 1000 Gs, ESP, or published controls) and has been reported in an affected individual diagnosed with Brugada Syndrome via a publication. However, no clinical diagnostic and/or databases have cited the variant. Therefore, the variant of interest has been classified as "likely pathogenic."
Invitae RCV001227043 SCV001399379 pathogenic Brugada syndrome 2019-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1316*) in the SCN5A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Brugada syndrome in a family and has been reported in individuals affected with Brugada syndrome (PMID: 30828344, 19561025). ClinVar contains an entry for this variant (Variation ID: 496571). Loss-of-function variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000681957 SCV000809452 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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