ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) (rs398124268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081591 SCV000113522 pathogenic not provided 2012-08-16 criteria provided, single submitter clinical testing
Invitae RCV000701675 SCV000830487 pathogenic Pitt-Hopkins-like syndrome 1 2017-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp718*) in the CNTNAP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with severe intellectual disability and seizures, however a second variant was not identified in this individual (PMID: 21827697). ClinVar contains an entry for this variant (Variation ID: 95560). Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 25045150, 26843181). For these reasons, this variant has been classified as Pathogenic.

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