ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.73A>G (p.Ile25Val)

gnomAD frequency: 0.00001  dbSNP: rs767145207
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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 RCV001370321 SCV001566792 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2020-08-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 25 of the SCN2A protein (p.Ile25Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs767145207, ExAC 0.002%). This variant has not been reported in the literature in individuals with SCN2A-related conditions. 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"). 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.

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