ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly)

dbSNP: rs752419100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589720 SCV001814307 uncertain significance not provided 2021-05-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Fulgent Genetics, Fulgent Genetics RCV002506689 SCV002814683 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2022-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570840 SCV003254712 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-03-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 982 of the CNTNAP2 protein (p.Glu982Gly). This variant is present in population databases (rs752419100, gnomAD 0.009%). 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: 1213132). 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.

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