ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.5A>G (p.Gln2Arg)

dbSNP: rs1797490798
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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 RCV001219582 SCV001391528 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2019-04-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glutamine with arginine at codon 2 of the CNTNAP2 protein (p.Gln2Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine.

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