ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.304A>G (p.Ile102Val)

gnomAD frequency: 0.00001  dbSNP: rs2062506660
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003541315 SCV001415138 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 102 of the SCN5A protein (p.Ile102Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epilepsy and long QT syndrome (PMID: 25119684). ClinVar contains an entry for this variant (Variation ID: 967224). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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