ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly)

dbSNP: rs1592149906
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805968 SCV000945945 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-11-17 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of SCN8A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 650755). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 967 of the SCN8A protein (p.Val967Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine.

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