ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3470C>G (p.Pro1157Arg)

dbSNP: rs1553589034
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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 RCV000640615 SCV000762209 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2017-11-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 proline with arginine at codon 1157 of the SCN2A protein (p.Pro1157Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. 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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