ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1633G>A (p.Ala545Thr)

gnomAD frequency: 0.00001  dbSNP: rs747922335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910709 SCV002195726 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 545 of the CNTNAP2 protein (p.Ala545Thr). This variant is present in population databases (rs747922335, gnomAD 0.01%). 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: 1419906). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV002466714 SCV002762284 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001910709 SCV003831083 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-01-28 criteria provided, single submitter clinical testing

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