ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)

gnomAD frequency: 0.00015  dbSNP: rs138497939
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192599 SCV000248819 uncertain significance not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001721260 SCV000514524 benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524559 SCV000639637 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311303 SCV000846558 likely benign Inborn genetic diseases 2017-05-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
New York Genome Center RCV001838989 SCV002099009 uncertain significance Developmental and epileptic encephalopathy, 11 2021-02-24 criteria provided, single submitter clinical testing

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