ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs)

dbSNP: rs730880275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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