ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.815A>G (p.Asp272Gly)

gnomAD frequency: 0.00001  dbSNP: rs772500302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328716 SCV001519898 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2020-05-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001328716 SCV002123588 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 272 of the CNTNAP2 protein (p.Asp272Gly). This variant is present in population databases (rs772500302, gnomAD 0.002%). 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: 1027826). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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