ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu)

dbSNP: rs2105385669
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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 RCV001989583 SCV002285300 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-03-25 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of SCN2A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. 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 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: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 1484 of the SCN2A protein (p.Gly1484Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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