ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2525T>A (p.Val842Glu)

dbSNP: rs1085307940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489752 SCV000577695 pathogenic not provided 2020-08-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29655203)

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