ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)

gnomAD frequency: 0.00183  dbSNP: rs143867796
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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) RCV000299713 SCV000341161 benign not specified 2016-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000299713 SCV000514573 benign not specified 2015-05-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000537505 SCV000633963 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314023 SCV000849204 likely benign Inborn genetic diseases 2016-05-13 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.
Fulgent Genetics, Fulgent Genetics RCV002504006 SCV002810622 likely benign Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 2021-08-03 criteria provided, single submitter clinical testing

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