ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3431C>A (p.Thr1144Asn)

dbSNP: rs775781258
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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 RCV000546888 SCV000645107 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2017-01-23 criteria provided, single submitter clinical testing 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"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CNTNAP2-related disease. This sequence change replaces threonine with asparagine at codon 1144 of the CNTNAP2 protein (p.Thr1144Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine.

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