ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile)

gnomAD frequency: 0.00001  dbSNP: rs763997333
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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 RCV000488105 SCV000575244 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001476355 SCV001680563 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356797 SCV002652796 likely benign Inborn genetic diseases 2018-07-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003419819 SCV004107800 uncertain significance SCN1A-related condition 2022-09-23 criteria provided, single submitter clinical testing The SCN1A c.5877G>T variant is predicted to result in the amino acid substitution p.Met1959Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-166847908-C-A), which is more common than expected for a disease-causing variant in SCN1A. Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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