ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1370A>G (p.Gln457Arg)

gnomAD frequency: 0.00001  dbSNP: rs1794916852
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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 RCV001965328 SCV002208481 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 457 of the CNTNAP2 protein (p.Gln457Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1439537). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV004612025 SCV005106535 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.1370A>G (p.Q457R) alteration is located in exon 9 (coding exon 9) of the CNTNAP2 gene. This alteration results from a A to G substitution at nucleotide position 1370, causing the glutamine (Q) at amino acid position 457 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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