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

dbSNP: rs1794916576

Total submissions: 3

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, Medical Genetics	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)