ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.2620G>T (p.Ala874Ser) (rs1057524820)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425333 SCV000536541 likely pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing The A874S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A874S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). It has been identified as a confirmed de novo variant at GeneDx. The A874S variant is a non-conservative amino acid substitution that alters a conserved position predicted to be within the intracellular loop between the S4 and S5 transmembrane segments of the second homologous domain. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.