ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3969T>G (p.Asp1323Glu)

gnomAD frequency: 0.00006  dbSNP: rs147968599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400150 SCV000341349 uncertain significance not provided 2016-05-05 criteria provided, single submitter clinical testing
Invitae RCV001371947 SCV001568531 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1323 of the CNTNAP2 protein (p.Asp1323Glu). This variant is present in population databases (rs147968599, gnomAD 0.02%). 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: 287553). 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 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.
GeneDx RCV000400150 SCV002008205 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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