ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2171G>C (p.Gly724Ala)

dbSNP: rs1554447808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644703 SCV000766406 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2018-11-07 criteria provided, single submitter clinical testing 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. 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 C55"). This variant has not been reported in the literature in individuals with CNTNAP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 724 of the CNTNAP2 protein (p.Gly724Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.

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