ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.193C>T (p.Pro65Ser)

gnomAD frequency: 0.00001  dbSNP: rs1202614416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841176 SCV001360299 uncertain significance Cardiac arrhythmia 2023-06-21 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 65 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The 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.
Invitae RCV001215626 SCV001387380 uncertain significance Brugada syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 65 of the SCN5A protein (p.Pro65Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
CeGaT Center for Human Genetics Tuebingen RCV003883572 SCV004698774 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing SCN5A: PM2

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