ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.48G>T (p.Trp16Cys)

dbSNP: rs886044073
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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) RCV000726271 SCV000343335 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000726271 SCV000569319 uncertain significance not provided 2021-02-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001232345 SCV001404900 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 16 of the CNTNAP2 protein (p.Trp16Cys). The tryptophan residue is weakly conserved and there is a large physicochemical difference between tryptophan and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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: 289060). 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: "Benign"; 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.

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