ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.498G>A (p.Trp166Ter)

dbSNP: rs1176180722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251137 SCV001426637 likely pathogenic Cortical dysplasia-focal epilepsy syndrome criteria provided, single submitter clinical testing
GeneDx RCV002466651 SCV002762360 likely pathogenic not provided 2022-06-07 criteria provided, single submitter clinical testing Reported previously as a likely pathogenic variant in the heterozygous state in a patient with micrognathia, hypertelorism, intellectual disability, and seizures. A second likely pathogenic heterozygous variant was also reported; however, phase was unknown (Bertoli-Avella et al., 2021); 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: 32860008)

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