ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.283G>C (p.Val95Leu) (rs199473054)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638725 SCV000760267 uncertain significance Brugada syndrome 2017-09-26 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 95 of the SCN5A protein (p.Val95Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs199473054, ExAC 0.02%). This variant has not been reported in the literature in individuals with SCN5A-related disease. This variant identified in the SCN5A gene is located in the cytoplasmic N-terminal region of the resulting protein (PMID: 25348405). For more information about the location of this variant, please visit www.invitae.com/SCN5A-topology. It is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.

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