ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.62G>A (p.Cys21Tyr)

gnomAD frequency: 0.00003  dbSNP: rs1341597305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028724 SCV002289592 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-10-10 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 21 of the CNTNAP2 protein (p.Cys21Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002657716 SCV003716365 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.62G>A (p.C21Y) alteration is located in exon 1 (coding exon 1) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 62, causing the cysteine (C) at amino acid position 21 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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