Submissions for variant NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)

gnomAD frequency: 0.00191  dbSNP: rs113380721

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186640	SCV000170793	benign	not specified	2013-03-15	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	RCV000186640	SCV000248288	likely benign	not specified	2016-03-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000186640	SCV000332679	likely benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000459770	SCV000431182	likely benign	Pitt-Hopkins-like syndrome 2	2018-01-12	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	RCV000459770	SCV000562379	benign	Pitt-Hopkins-like syndrome 2	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717459	SCV000848310	likely benign	History of neurodevelopmental disorder	2016-10-24	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
CeGaT Center for Human Genetics Tuebingen	RCV001529050	SCV001962256	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	NRXN1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003935200	SCV004752563	likely benign	NRXN1-related condition	2020-04-21	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529050	SCV001741846	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529050	SCV001800660	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529050	SCV001927711	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529050	SCV001966529	likely benign	not provided		no assertion criteria provided	clinical testing