ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=)

gnomAD frequency: 0.00006  dbSNP: rs375254452
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182916 SCV000235308 benign not specified 2014-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000182916 SCV000270833 likely benign not specified 2015-12-18 criteria provided, single submitter clinical testing p.Ser1934Ser in exon 28 of SCN5A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 14/66028 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs375254452).
Invitae RCV003654218 SCV000637190 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618537 SCV000736803 likely benign Cardiovascular phenotype 2017-03-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health RCV001842890 SCV000913843 likely benign Cardiac arrhythmia 2018-10-08 criteria provided, single submitter clinical testing

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