Submissions for variant NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)

gnomAD frequency: 0.00166  dbSNP: rs147984237

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173027	SCV000111397	benign	not specified	2015-06-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000173027	SCV000170805	benign	not specified	2013-07-22	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.
Illumina Laboratory Services, Illumina	RCV000467657	SCV000431204	likely benign	Pitt-Hopkins-like syndrome 2	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000467657	SCV000562377	benign	Pitt-Hopkins-like syndrome 2	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000173027	SCV000614358	likely benign	not specified	2017-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311580	SCV000845915	likely benign	Inborn genetic diseases	2016-07-08	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.
CeGaT Center for Human Genetics Tuebingen	RCV003421974	SCV004146129	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	NRXN1: BP4, BP7