ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val)

dbSNP: rs1553463427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296127 SCV001485083 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1634 of the SCN2A protein (p.Gly1634Val). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly1634 amino acid residue in SCN2A. Other variant(s) that disrupt this residue have been observed in individuals with SCN2A-related conditions (PMID: 27328862), which suggests that this may be a clinically significant amino acid residue. 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"). ClinVar contains an entry for this variant (Variation ID: 1000049). This missense change has been observed in individual(s) with SCN2A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).
Neurology Department, Shenzhen Children's Hospital RCV001847232 SCV002099502 pathogenic Epilepsy of infancy with migrating focal seizures 2022-02-16 no assertion criteria provided clinical testing

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