ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5030A>G (p.Asn1677Ser)

gnomAD frequency: 0.00003  dbSNP: rs756946727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841138 SCV001359002 uncertain significance Cardiac arrhythmia 2019-05-23 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 1678 of the SCN5A protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 7/251496 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV003658334 SCV003254510 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1678 of the SCN5A protein (p.Asn1678Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 927764). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. This variant is present in population databases (rs756946727, gnomAD 0.009%).

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