ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1762C>A (p.His588Asn)

dbSNP: rs748732150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003540969 SCV000946664 uncertain significance not provided 2022-03-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs748732150, gnomAD 0.0009%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 588 of the SCN5A protein (p.His588Asn). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 651320). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001841984 SCV001347820 likely benign Cardiac arrhythmia 2019-03-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841984 SCV004825646 uncertain significance Cardiac arrhythmia 2023-06-28 criteria provided, single submitter clinical testing

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