ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=)

gnomAD frequency: 0.00002  dbSNP: rs764174474
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001133246 SCV001292940 uncertain significance Migraine, familial hemiplegic, 3 2017-12-11 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001133247 SCV001292941 uncertain significance Generalized epilepsy with febrile seizures plus, type 2 2017-12-11 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001473166 SCV001677310 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-03-19 criteria provided, single submitter clinical testing
GeneDx RCV000861427 SCV001941649 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735830 SCV005350522 likely benign SCN1A-related disorder 2024-07-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.