ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283996 SCV002573290 uncertain significance Developmental and epileptic encephalopathy, 13 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.95; 3Cnet: 0.97). A different missense change at the same codon (p.Thr258Ile) has been reported to be associated with SCN8A-related disorder (ClinVar ID: VCV000559632). However, as the evidence of pathogenicity is insufficient at this time, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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