ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4719G>A (p.Glu1573=)

gnomAD frequency: 0.00002  dbSNP: rs1057523731
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427685 SCV000533132 likely benign not specified 2016-10-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766408 SCV001002731 likely benign not provided 2023-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339084 SCV002637726 likely benign Cardiovascular phenotype 2021-03-22 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 RCV004000536 SCV004817991 likely benign Cardiac arrhythmia 2023-11-20 criteria provided, single submitter clinical testing

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