ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3598T>A (p.Ser1200Thr)

gnomAD frequency: 0.00001  dbSNP: rs758752276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881299 SCV002141785 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1200 of the CNTNAP2 protein (p.Ser1200Thr). This variant is present in population databases (rs758752276, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of CNTNAP2-related conditions (PMID: 33528079). ClinVar contains an entry for this variant (Variation ID: 1378722). 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 RCV004728887 SCV005331586 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Reported in an individual with epilepsy (Atli et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33528079)

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