ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3109C>T (p.Pro1037Ser)

gnomAD frequency: 0.00002  dbSNP: rs541853843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317998 SCV000849574 uncertain significance Inborn genetic diseases 2017-05-12 criteria provided, single submitter clinical testing The p.P1037S variant (also known as c.3109C>T), located in coding exon 19 of the CNTNAP2 gene, results from a C to T substitution at nucleotide position 3109. The proline at codon 1037 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001215127 SCV001386854 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1037 of the CNTNAP2 protein (p.Pro1037Ser). This variant is present in population databases (rs541853843, gnomAD 0.01%). 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: 589054). 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. 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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