ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1051G>A (p.Ala351Thr)

gnomAD frequency: 0.00004  dbSNP: rs201253086
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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) RCV000179940 SCV000232260 uncertain significance not provided 2014-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000688347 SCV000815953 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-04-10 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 351 of the CNTNAP2 protein (p.Ala351Thr). This variant is present in population databases (rs201253086, gnomAD 0.006%). 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: 198558). 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 RCV000179940 SCV005383673 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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