Submissions for variant NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)

gnomAD frequency: 0.00054  dbSNP: rs141078449

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116782	SCV000150764	likely benign	not specified	2013-08-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000116782	SCV000167809	benign	not specified	2013-12-04	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.
Eurofins Ntd Llc (ga)	RCV000725230	SCV000335177	uncertain significance	not provided	2015-09-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338723	SCV000467295	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399457	SCV000467296	uncertain significance	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000338723	SCV000563247	likely benign	Cortical dysplasia-focal epilepsy syndrome	2025-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316301	SCV000850722	likely benign	Inborn genetic diseases	2016-04-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000725230	SCV004161282	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	CNTNAP2: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000725230	SCV001932660	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725230	SCV001963732	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925133	SCV004738908	likely benign	CNTNAP2-related disorder	2020-01-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).