Submissions for variant NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)

gnomAD frequency: 0.00109  dbSNP: rs56402642

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710165	SCV000111404	uncertain significance	not provided	2017-08-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000186646	SCV000170809	benign	not specified	2013-03-29	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.
Invitae	RCV001085705	SCV000562381	likely benign	Pitt-Hopkins-like syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000186646	SCV000596066	likely benign	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000186646	SCV000614362	benign	not specified	2020-08-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313757	SCV000849370	likely benign	Inborn genetic diseases	2016-03-21	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	RCV001085705	SCV001299154	benign	Pitt-Hopkins-like syndrome 2	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000710165	SCV002585794	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	NRXN1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004542756	SCV004767412	likely benign	NRXN1-related disorder	2019-03-08	criteria provided, single submitter	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).