ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)

gnomAD frequency: 0.25169  dbSNP: rs2060198
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118259 SCV000152626 benign not specified 2013-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000118259 SCV000171514 benign not specified 2012-02-14 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.
PreventionGenetics, part of Exact Sciences RCV000118259 SCV000313740 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291138 SCV000417453 benign Seizures, benign familial infantile, 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV002312495 SCV000846068 benign Inborn genetic diseases 2015-12-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000860055 SCV000999971 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807062 SCV002054536 benign Developmental and epileptic encephalopathy, 11 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807063 SCV002054537 benign Episodic ataxia, type 9 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000291138 SCV002054538 benign Seizures, benign familial infantile, 3 2021-07-15 criteria provided, single submitter clinical testing

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