ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=)

gnomAD frequency: 0.00008  dbSNP: rs543538780
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193413 SCV000248803 benign not specified 2016-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000228081 SCV000290574 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-12-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261790 SCV000417404 likely benign Seizures, benign familial infantile, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000193413 SCV000514508 benign not specified 2015-03-19 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.
Ambry Genetics RCV002315499 SCV000848801 likely benign Inborn genetic diseases 2017-01-19 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.
CeGaT Center for Human Genetics Tuebingen RCV004808623 SCV005431603 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing SCN2A: BP4, BP7, BS1

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