ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu)

dbSNP: rs756102773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656441 SCV001381590 uncertain significance not provided 2019-09-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This missense change has been reported to have conflicting or insufficient data to determine the effect on SCN5A protein function (PMID: 11997281). This missense change has been observed in an individual affected with clinical features of long QT syndrome (PMID: 11997281). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 1250 of the SCN5A protein (p.Phe1250Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001175239 SCV001338806 uncertain significance Brugada syndrome 2019-03-19 no assertion criteria provided clinical testing

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