Submissions for variant NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)

gnomAD frequency: 0.00269  dbSNP: rs139180845

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081585	SCV000113516	benign	not specified	2013-07-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081585	SCV000150751	benign	not specified	2015-02-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000081585	SCV000240751	likely benign	not specified	2017-10-20	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224007	SCV000281151	likely benign	not provided	2016-04-11	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000987992	SCV000563232	likely benign	Cortical dysplasia-focal epilepsy syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311646	SCV000845938	likely benign	Inborn genetic diseases	2018-10-12	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.
Mendelics	RCV000987992	SCV001137535	benign	Cortical dysplasia-focal epilepsy syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987992	SCV001326004	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000224007	SCV004161271	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CNTNAP2: BS2
PreventionGenetics, part of Exact Sciences	RCV003935059	SCV004753285	likely benign	CNTNAP2-related disorder	2020-01-17	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).