ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His)

dbSNP: rs369919189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503834 SCV000594184 uncertain significance not specified 2015-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230560 SCV001403042 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-09-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 915 of the CNTNAP2 protein (p.Arg915His). This variant is present in population databases (rs369919189, gnomAD 0.004%). 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: 434807). 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: "Possibly 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.
Revvity Omics, Revvity RCV001230560 SCV003831099 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2020-12-04 criteria provided, single submitter clinical testing

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