ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.3974A>G (p.Asn1325Ser) (rs28937317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001225683 SCV001397968 pathogenic Brugada syndrome 2019-10-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1325 of the SCN5A protein (p.Asn1325Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with long QT syndrome in a family (PMID: 8541846) and has been observed in individuals affected with this condition (PMID: 17905336, 28412158, Invitae). ClinVar contains an entry for this variant (Variation ID: 9370). This variant has been reported to affect SCN5A protein function (PMID: 19762097, 8620612, 8917568). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009964 SCV000030185 pathogenic Long QT syndrome 3 1995-03-10 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058618 SCV000090138 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:8541846;PMID:14736542;PMID:15840476;PMID:17905336;PMID:19716085;PMID:19841300;PMID:19762097;PMID:8620612;PMID:8917568). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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