ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3304G>A (p.Val1102Ile)

gnomAD frequency: 0.00007  dbSNP: rs773399465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187229 SCV000240811 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing Reported previously in a control individual in a study regarding the association of CNTNAP2 variants and autism (PMID: 25621974); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25621974)
Labcorp Genetics (formerly Invitae), Labcorp RCV000558104 SCV000645105 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1102 of the CNTNAP2 protein (p.Val1102Ile). This variant is present in population databases (rs773399465, gnomAD 0.04%). 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: 205284). 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.
Revvity Omics, Revvity RCV000558104 SCV003831097 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2019-05-28 criteria provided, single submitter clinical testing

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