Submissions for variant NM_014141.6(CNTNAP2):c.1777+7G>A

gnomAD frequency: 0.00013  dbSNP: rs770951811

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187152	SCV000240730	benign	not specified	2014-08-08	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)	RCV000725489	SCV000337273	uncertain significance	not provided	2015-11-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340247	SCV000467249	uncertain significance	Pitt-Hopkins-like syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378613	SCV000467250	uncertain significance	Cortical dysplasia-focal epilepsy syndrome	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000378613	SCV000563250	likely benign	Cortical dysplasia-focal epilepsy syndrome	2024-11-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000187152	SCV000594168	uncertain significance	not specified	2017-01-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927735	SCV004738162	likely benign	CNTNAP2-related disorder	2019-03-25	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).