ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2011C>T (p.Gln671Ter)

dbSNP: rs2116924115
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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 RCV001893466 SCV002171089 pathogenic Cortical dysplasia-focal epilepsy syndrome 2024-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln671*) 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 is not present in population databases (gnomAD no frequency). 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: 1398096). For these reasons, this variant has been classified as Pathogenic.

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