ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=)

gnomAD frequency: 0.00058  dbSNP: rs201045619
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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) RCV000175204 SCV000226648 uncertain significance not provided 2016-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086861 SCV001004579 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000175204 SCV001856451 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321691 SCV002609317 likely benign Inborn genetic diseases 2018-11-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV004734780 SCV005363600 likely benign SCN8A-related disorder 2024-03-12 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).

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