ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.5614C>G (p.Arg1872Gly) (rs796053228)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489233 SCV000576878 likely pathogenic not provided 2017-04-17 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the SCN8A gene. The R1872G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1872G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1872G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. Different missense variants in the same residue (R1872W, R1872L, R1872Q) as well as missense variants in nearby residues (E1870D, N1877S) have been reported in the Human Gene Mutation Database in association with SCN8A-related disorders (Stenson et al., 2014). In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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