ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2945T>C (p.Val982Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818967 SCV005438981 uncertain significance Severe myoclonic epilepsy in infancy 2023-07-22 criteria provided, single submitter clinical testing The observed missense variant c.2945T>Cp.Val982Ala in the SCN1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Val at position 982 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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