ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2449G>A (p.Gly817Arg)

gnomAD frequency: 0.00006  dbSNP: rs140239461
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059541 SCV001224168 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-19 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 817 of the CNTNAP2 protein (p.Gly817Arg). This variant is present in population databases (rs140239461, gnomAD 0.008%). 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: 854477). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001547072 SCV001766695 uncertain significance not provided 2019-06-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
St. Anna Children's Cancer Research Institute (CCRI) RCV001059541 SCV003799186 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-02-09 criteria provided, single submitter research ACMG classification of pathogenicity variant 2: PM2, PP3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001547072 SCV001800111 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001547072 SCV001975710 uncertain significance not provided no assertion criteria provided clinical testing

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