ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5478C>T (p.Ile1826=)

gnomAD frequency: 0.00016  dbSNP: rs138892850
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Total submissions: 6
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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 RCV000154834 SCV000204516 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ile1827Ile in exon 28 of SCN5A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/3620 African Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs138892850). Ile1827Ile in exon 28 of SCN5A (rs138892850; allele frequency = 1/3620) **
GeneDx RCV001719963 SCV000514557 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001719963 SCV000557132 likely benign not provided 2024-11-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842481 SCV001352330 likely benign Cardiac arrhythmia 2018-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345502 SCV002654337 likely benign Cardiovascular phenotype 2019-07-24 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.
All of Us Research Program, National Institutes of Health RCV001842481 SCV004821406 likely benign Cardiac arrhythmia 2023-10-06 criteria provided, single submitter clinical testing

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