ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg)

gnomAD frequency: 0.00041  dbSNP: rs142980731
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000729888 SCV000240773 uncertain significance not provided 2024-11-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV000187193 SCV000594181 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000548851 SCV000645087 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 620 of the CNTNAP2 protein (p.Gly620Arg). This variant is present in population databases (rs142980731, gnomAD 0.1%). 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: 205250). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Eurofins Ntd Llc (ga) RCV000729888 SCV000857584 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408831 SCV002718043 uncertain significance Inborn genetic diseases 2024-01-12 criteria provided, single submitter clinical testing The c.1858G>A (p.G620R) alteration is located in exon 12 (coding exon 12) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 1858, causing the glycine (G) at amino acid position 620 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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