Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255180 | SCV000322238 | pathogenic | not provided | 2022-09-04 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation as the last 95 amino acids are replaced with 16 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22872700, 23714751, 25852443, 16571880, 28588433, 31028937, 22365836, 34778490, 34471112) |
Invitae | RCV000005825 | SCV001215311 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp1237Ilefs*17) in the CNTNAP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 95 amino acid(s) of the CNTNAP2 protein. This variant is present in population databases (rs775938663, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with autosomal recessive syndromic epilepsy (PMID: 16571880, 19302947). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5490). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects CNTNAP2 function (PMID: 22872700). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000005825 | SCV000026007 | pathogenic | Cortical dysplasia-focal epilepsy syndrome | 2006-03-30 | no assertion criteria provided | literature only |