ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3721G>A (p.Ala1241Thr)

dbSNP: rs1323109339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896634 SCV002173009 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-23 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1400258). 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 threonine, which is neutral and polar, at codon 1241 of the CNTNAP2 protein (p.Ala1241Thr).

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