ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1020G>T (p.Arg340=)

dbSNP: rs727503410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151801 SCV000200264 likely benign not specified 2014-09-25 criteria provided, single submitter clinical testing Arg340Arg in exon 9 of SCN5A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Ambry Genetics RCV002390328 SCV002675155 likely benign Cardiovascular phenotype 2018-12-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003542288 SCV003453470 likely benign not provided 2022-08-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998230 SCV004828403 uncertain significance Cardiac arrhythmia 2023-07-08 criteria provided, single submitter clinical testing This variant is located in the SCN5A protein. 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.

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