Submissions for variant NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)

gnomAD frequency: 0.00323  dbSNP: rs78540316

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079510	SCV000111392	benign	not specified	2015-02-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000079510	SCV000241854	benign	not specified	2016-12-19	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.
Genetic Services Laboratory, University of Chicago	RCV000079510	SCV000248272	likely benign	not specified	2015-06-11	criteria provided, single submitter	clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV000209954	SCV000265534	likely benign	Pitt-Hopkins-like syndrome 2	2016-07-14	criteria provided, single submitter	research
Invitae	RCV000209954	SCV000286209	benign	Pitt-Hopkins-like syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311578	SCV000847066	likely benign	Inborn genetic diseases	2018-06-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Athena Diagnostics Inc	RCV000857869	SCV001144779	benign	not provided	2018-09-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000209954	SCV001304012	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). 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.
CeGaT Center for Human Genetics Tuebingen	RCV000857869	SCV004011171	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	NRXN1: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000857869	SCV004563045	benign	not provided	2023-11-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925047	SCV004755428	benign	NRXN1-related condition	2019-06-06	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).