ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=)

gnomAD frequency: 0.00001  dbSNP: rs752845880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416266 SCV000493389 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000416266 SCV000970249 likely benign not provided 2018-06-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058873 SCV002441354 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348138 SCV002647344 likely benign Inborn genetic diseases 2020-03-19 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.

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