ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1834A>G (p.Thr612Ala)

dbSNP: rs2061957185
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841040 SCV001355583 uncertain significance Cardiac arrhythmia 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces threonine with alanine at codon 612 of the SCN5A protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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