ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.842T>C (p.Ile281Thr)

dbSNP: rs1801101439
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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 RCV001201735 SCV001372821 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2019-10-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 281 of the CNTNAP2 protein (p.Ile281Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0").

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