ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4937T>C (p.Leu1646Pro)

dbSNP: rs1060499611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003656635 SCV001415181 uncertain significance not provided 2019-10-22 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 417943). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 1647 of the SCN5A protein (p.Leu1647Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477850 SCV000536898 uncertain significance Long QT syndrome 3 2016-07-19 no assertion criteria provided research

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