Submissions for variant NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)

gnomAD frequency: 0.00405  dbSNP: rs150918383

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081609	SCV000113540	benign	not specified	2012-09-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081609	SCV000150750	benign	not specified	2015-12-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000711335	SCV000240724	benign	not provided	2018-03-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24807205)
PreventionGenetics, part of Exact Sciences	RCV000081609	SCV000312081	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080980	SCV000563238	benign	Cortical dysplasia-focal epilepsy syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711335	SCV000841677	benign	not provided	2017-09-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311653	SCV000845944	likely benign	Inborn genetic diseases	2018-09-22	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.
Illumina Laboratory Services, Illumina	RCV001080980	SCV001325656	benign	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics	RCV002504999	SCV002812621	likely benign	Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome	2022-04-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711335	SCV004161270	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	CNTNAP2: BS2