ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter)

gnomAD frequency: 0.00001  dbSNP: rs371642222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000505261 SCV001395610 pathogenic Cortical dysplasia-focal epilepsy syndrome 2019-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1016*) in the CNTNAP2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with clinical features of Pitt-Hopkins-like syndrome (PMID: 27439707). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 438342). Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 21827697, 25045150, 26843181, 27439707). For these reasons, this variant has been classified as Pathogenic.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260690 SCV001437782 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
OMIM RCV000505261 SCV000599440 pathogenic Cortical dysplasia-focal epilepsy syndrome 2017-09-07 no assertion criteria provided literature only

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