ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)

gnomAD frequency: 0.00076  dbSNP: rs143765389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127938 SCV000171524 benign not specified 2014-03-18 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.
Genetic Services Laboratory, University of Chicago RCV000127938 SCV000248820 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086585 SCV000762245 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316408 SCV000850799 likely benign Inborn genetic diseases 2016-12-22 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.
Athena Diagnostics RCV000640650 SCV001145465 benign not provided 2018-11-29 criteria provided, single submitter clinical testing

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