ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1971C>T (p.Val657=)

gnomAD frequency: 0.00001  dbSNP: rs149230197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127946 SCV000171533 benign not specified 2013-11-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001497570 SCV001702304 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-09-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000127946 SCV002066436 likely benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415619 SCV002721290 likely benign Inborn genetic diseases 2018-11-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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