ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.768C>A (p.Ile256=)

gnomAD frequency: 0.00001  dbSNP: rs1231477580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614724 SCV000726092 likely benign not specified 2018-01-02 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.
Invitae RCV000937742 SCV001083533 likely benign Early infantile epileptic encephalopathy with suppression bursts 2019-02-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892363 SCV004712719 likely benign SCN8A-related condition 2023-05-27 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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