ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2126G>A (p.Gly709Asp)

gnomAD frequency: 0.00001  dbSNP: rs774529648
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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 RCV001965194 SCV002207797 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-30 criteria provided, single submitter clinical testing This variant is present in population databases (rs774529648, ExAC 0.006%). 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 disruptive. 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. This sequence change replaces glycine with aspartic acid at codon 709 of the CNTNAP2 protein (p.Gly709Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.
Ambry Genetics RCV003303460 SCV003992774 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.2126G>A (p.G709D) alteration is located in exon 14 (coding exon 14) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 2126, causing the glycine (G) at amino acid position 709 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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