ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)

dbSNP: rs1057524820
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585876 SCV000693804 likely pathogenic Developmental and epileptic encephalopathy, 13 2018-01-01 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000585876 SCV000926975 likely pathogenic Developmental and epileptic encephalopathy, 13 2018-12-17 criteria provided, single submitter clinical testing
Mendelics RCV002248807 SCV002519063 pathogenic Cognitive impairment with or without cerebellar ataxia 2022-05-04 criteria provided, single submitter clinical testing
3billion RCV000585876 SCV003841461 pathogenic Developmental and epileptic encephalopathy, 13 2023-02-23 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: 0.92; 3Cnet: 0.95). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000495260). The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least two similarly affected unrelated individuals (PMID: 31780880). A different missense change at the same codon (p.Ala874Ser) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000393169). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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