ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4614G>C (p.Met1538Ile)

dbSNP: rs1553463042
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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 RCV001359148 SCV001555010 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2020-01-15 criteria provided, single submitter clinical testing 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 sequence change replaces methionine with isoleucine at codon 1538 of the SCN2A protein (p.Met1538Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN2A-related conditions. 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.
Channelopathy-Associated Epilepsy Research Center RCV003483566 SCV004232415 not provided Complex neurodevelopmental disorder no assertion provided literature only

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