ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1582G>A (p.Asp528Asn)

gnomAD frequency: 0.00002  dbSNP: rs761732433
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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 RCV001324012 SCV001514951 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1023896). 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. 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. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs761732433, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 528 of the CNTNAP2 protein (p.Asp528Asn).
Ambry Genetics RCV002545139 SCV003530954 likely benign Inborn genetic diseases 2024-04-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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