ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs)

dbSNP: rs1794916576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196340 SCV001366941 likely pathogenic Cortical dysplasia-focal epilepsy syndrome 2019-09-04 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
3billion RCV001196340 SCV004013675 pathogenic Cortical dysplasia-focal epilepsy syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with CNTNAP2 related disorder (ClinVar ID: VCV000930571 / PMID: 36011376). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
St. Anna Children's Cancer Research Institute (CCRI) RCV001196340 SCV003798488 pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-02-08 no assertion criteria provided research ACMG classification: PVS1, PM2, PP1 (strong) PM3 (4 score)

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