ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)

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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 RCV002866294 SCV003227548 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-08-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 978 of the SCN2A protein (p.Phe978Leu). This missense change has been observed in individual(s) with clinical features of epileptic encephalopathy with cerebellar atrophy (PMID: 31526516, 32695065, 34894057; 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: "Possibly Damaging"; Align-GVGD: "Class C0").

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