ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.638C>T (p.Ala213Val)

dbSNP: rs1563079216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711333 SCV000841674 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532910 SCV003329694 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 585730). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 213 of the CNTNAP2 protein (p.Ala213Val). 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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