ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4571T>C (p.Val1524Ala)

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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 RCV003854656 SCV004661037 uncertain significance not provided 2023-03-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1525 of the SCN5A protein (p.Val1525Ala). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. 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 disruptive. 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.
All of Us Research Program, National Institutes of Health RCV004805100 SCV005428258 uncertain significance Cardiac arrhythmia 2024-03-05 criteria provided, single submitter clinical testing

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