ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)

gnomAD frequency: 0.00790  dbSNP: rs114315466
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118254 SCV000152621 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000118254 SCV000171531 benign not specified 2013-01-15 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.
Illumina Laboratory Services, Illumina RCV000389675 SCV000417409 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.
Invitae RCV000460588 SCV000562150 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312493 SCV000847040 benign Inborn genetic diseases 2016-04-15 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.
Athena Diagnostics Inc RCV000118254 SCV001475476 benign not specified 2020-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498532 SCV002808677 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 2022-05-29 criteria provided, single submitter clinical testing

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