ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1489T>A (p.Phe497Ile)

dbSNP: rs760122387
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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 RCV001230231 SCV001402705 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2019-09-24 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 are either unavailable or 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 CNTNAP2-related conditions. This variant is present in population databases (rs760122387, ExAC 0.002%). This sequence change replaces phenylalanine with isoleucine at codon 497 of the CNTNAP2 protein (p.Phe497Ile). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and isoleucine.

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