ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)

gnomAD frequency: 0.00001  dbSNP: rs771533907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509329 SCV001715978 likely pathogenic not provided 2020-01-08 criteria provided, single submitter clinical testing PVS1, PM2
GeneDx RCV001509329 SCV001778760 pathogenic not provided 2024-03-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37805811)
Labcorp Genetics (formerly Invitae), Labcorp RCV001859355 SCV002229926 pathogenic Cortical dysplasia-focal epilepsy syndrome 2022-12-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs771533907, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg1095*) in the CNTNAP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 21827697, 25045150, 26843181, 27439707). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1163876).

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