ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5614C>G (p.Arg1872Gly)

dbSNP: 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 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the C-terminal cytoplasmic domain; Has not been previously published as pathogenic or benign to our knowledge

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