ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.191A>T (p.Lys64Met)

dbSNP: rs2129185984
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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 RCV002021242 SCV002301233 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-01-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. This sequence change replaces lysine with methionine at codon 64 of the CNTNAP2 protein (p.Lys64Met). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and methionine.

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