ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.813G>C (p.Met271Ile)

dbSNP: rs1553567950
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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 RCV000640625 SCV000762219 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2017-12-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN2A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 271 of the SCN2A protein (p.Met271Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine.

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