ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1843dup (p.Asp615fs)

dbSNP: rs2116789389
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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 RCV001933843 SCV002206302 pathogenic Cortical dysplasia-focal epilepsy syndrome 2021-06-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp615Glyfs*3) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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