ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=)

gnomAD frequency: 0.00002  dbSNP: rs145731678
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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 RCV000214930 SCV000270830 likely benign not specified 2016-02-09 criteria provided, single submitter clinical testing p.Ile1688Ile 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 4/66740 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs145731678).
GeneDx RCV000214930 SCV000516829 benign not specified 2015-05-06 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.
Invitae RCV002057145 SCV001009009 likely benign not provided 2023-09-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842979 SCV001348914 likely benign Cardiac arrhythmia 2018-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002057145 SCV002496798 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338670 SCV002642760 likely benign Cardiovascular phenotype 2020-09-01 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.

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