ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.109A>G (p.Thr37Ala)

dbSNP: rs753953732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656210 SCV001204170 uncertain significance not provided 2023-05-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 838933). This variant is present in population databases (rs753953732, gnomAD 0.02%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 37 of the SCN5A protein (p.Thr37Ala).
Color Diagnostics, LLC DBA Color Health RCV001842588 SCV001340549 likely benign Cardiac arrhythmia 2018-11-11 criteria provided, single submitter clinical testing

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