ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) (rs121917754)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217344 SCV001389179 uncertain significance Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2019-07-16 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 1003 of the SCN2A protein (p.Leu1003Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with benign familial neonatal-infantile seizures in a family (PMID: 15048894). ClinVar contains an entry for this variant (Variation ID: 12881). 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"). 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.
OMIM RCV000013741 SCV000033988 pathogenic Benign familial neonatal-infantile seizures 2004-04-01 no assertion criteria provided literature only

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