ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1424G>A (p.Arg475Gln)

gnomAD frequency: 0.00029  dbSNP: rs201018451
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153910 SCV000203525 likely benign not specified 2014-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001719952 SCV000242933 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33083721)
Invitae RCV000636294 SCV000757733 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390338 SCV002697383 likely benign Inborn genetic diseases 2019-03-22 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 RCV003927488 SCV004745662 likely benign SCN8A-related condition 2022-08-19 criteria provided, single submitter 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).

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