ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1410C>G (p.Asn470Lys) (rs199473115)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305266 SCV001494595 uncertain significance Brugada syndrome 2020-06-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 470 of the SCN5A protein (p.Asn470Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with atrial fibrillation (PMID: 18378609). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30047). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
OMIM RCV000022949 SCV000044240 pathogenic Atrial fibrillation, familial, 10 2008-04-15 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058421 SCV000089941 not provided Atrial fibrillation no assertion provided literature only This variant has been reported as associated with Atrial fibrillation in the following publications (PMID:18378609). 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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