ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3109G>A (p.Asp1037Asn)

dbSNP: rs926542477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997262 SCV001152484 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000997262 SCV001811904 uncertain significance not provided 2021-08-20 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, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be in the cytoplasmic loop between the second and third homologous domains

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