ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.338A>G (p.Tyr113Cys)

gnomAD frequency: 0.00002  dbSNP: rs779208613
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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 RCV000457186 SCV000553426 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 113 of the CNTNAP2 protein (p.Tyr113Cys). This variant is present in population databases (rs779208613, gnomAD 0.07%). 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: 411995). 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: "Probably 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.
GeneDx RCV001572424 SCV001797059 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32381728)
Revvity Omics, Revvity RCV000457186 SCV003831096 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2020-03-23 criteria provided, single submitter clinical testing

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