ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1677C>T (p.His559=)

gnomAD frequency: 0.00051  dbSNP: rs202212399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723995 SCV000225657 uncertain significance not provided 2014-07-04 criteria provided, single submitter clinical testing
GeneDx RCV000723995 SCV000531253 benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089206 SCV000757891 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399625 SCV002714625 likely benign Inborn genetic diseases 2018-11-01 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.

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