ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2117G>A (p.Trp706Ter)

dbSNP: rs1799910521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001888958 SCV002154032 pathogenic Cortical dysplasia-focal epilepsy syndrome 2022-09-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1385730). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp706*) 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).

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