ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.994G>A (p.Ala332Thr)

gnomAD frequency: 0.00001  dbSNP: rs749769938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539996 SCV000760243 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 332 of the SCN5A protein (p.Ala332Thr). This variant is present in population databases (rs749769938, gnomAD 0.002%). This missense change has been observed in individual(s) with long QT syndrome (PMID: 32161207). ClinVar contains an entry for this variant (Variation ID: 532096). 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.
Color Diagnostics, LLC DBA Color Health RCV001841838 SCV001346107 uncertain significance Cardiac arrhythmia 2018-12-14 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the transmembrane domain DI of the SCN5A protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on 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 been identified in 2/246194 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
All of Us Research Program, National Institutes of Health RCV001841838 SCV004824202 uncertain significance Cardiac arrhythmia 2023-04-27 criteria provided, single submitter clinical testing

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