ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.682G>T (p.Gly228Ter)

dbSNP: rs371512835
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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 RCV001877348 SCV002135467 pathogenic Cortical dysplasia-focal epilepsy syndrome 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly228*) 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: 1370808). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004770244 SCV005378869 likely pathogenic not provided 2023-12-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005040449 SCV005667270 likely pathogenic Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2024-03-26 criteria provided, single submitter clinical testing

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