ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.4868G>A (p.Arg1623Gln) (rs137854600)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820240 SCV000960945 pathogenic Brugada syndrome 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1623 of the SCN5A protein (p.Arg1623Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with long QT syndrome (PMID: 10200053,24218437, 15051636, 19863579). This variant has been observed in many individuals with long QT syndrome (PMID: 15670972, 15184283, 15184283, 10508990, 25904541, 19841300), in several individuals referred for Brugada syndrome testing (PMID: 20129283, 25904541), and in several individuals with severe cardiac outcomes (PMID: 22360817). ClinVar contains an entry for this variant (Variation ID: 9376). Experimental studies have shown that this missense change causes severe sodium channel defects (PMID: 10772658, 9506831, 19167409, 20090423, 9495298, 10618304, 15621041). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009970 SCV000030191 pathogenic Long QT syndrome 3 2006-09-01 no assertion criteria provided literature only
OMIM RCV000009971 SCV000030192 pathogenic Long qt syndrome 3/6, digenic 2006-09-01 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058716 SCV000090236 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:9495298;PMID:9506831;PMID:10973849;PMID:12574983;PMID:15051636;PMID:15184283;PMID:16922724;PMID:19167409;PMID:19716085;PMID:19841300;PMID:20090423;PMID:10772658). 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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