Submissions for variant NM_014141.6(CNTNAP2):c.3716-6C>G

gnomAD frequency: 0.00004  dbSNP: rs77025884

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081603	SCV000113534	benign	not specified	2015-08-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081603	SCV000150765	benign	not specified	2014-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000081603	SCV000167816	benign	not specified	2013-05-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000081603	SCV000312077	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576591	SCV000677262	benign	Cortical dysplasia-focal epilepsy syndrome	2017-04-28	criteria provided, single submitter	clinical testing
Invitae	RCV000576591	SCV000766460	benign	Cortical dysplasia-focal epilepsy syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576591	SCV001326178	likely benign	Cortical dysplasia-focal epilepsy syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000081603	SCV001438964	benign	not specified		criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224139	SCV003919814	uncertain significance	Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome	2021-03-30	criteria provided, single submitter	clinical testing	CNTNAP2 NM_014141 exon 23 c.3716-6C>G: This variant has not been reported in the literature but is present in 12% (1198/9918) of African individuals, including 400 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs374969707). This variant is present in ClinVar, with several labs classifying this variant as benign (Variation ID: 95572). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as Likely Benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081603	SCV001926341	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081603	SCV001971206	benign	not specified		no assertion criteria provided	clinical testing