ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)

dbSNP: rs876657399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000172909 SCV002521823 pathogenic Developmental and epileptic encephalopathy, 13 2022-05-22 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. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 25725044). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.90; 3Cnet: 0.38). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with SCN8A related disorder (ClinVar ID: VCV000192317 / PMID: 25725044). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25725044). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000172909 SCV000223891 pathogenic Developmental and epileptic encephalopathy, 13 2015-05-01 no assertion criteria provided literature only
GeneReviews RCV000172909 SCV000298197 not provided Developmental and epileptic encephalopathy, 13 no assertion provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003602 SCV001161996 pathogenic Global developmental delay; Seizure no assertion criteria provided research

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