Submissions for variant NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter)

dbSNP: rs199546979

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000522614	SCV000226888	uncertain significance	not provided	2018-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000522614	SCV000618356	likely pathogenic	not provided	2024-05-30	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Identified in the heterozygous state in an individual with autism, epilepsy, and developmental delay, although the inheritance is unknown (PMID: 29056246); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29056246)
Genetics and Molecular Pathology, SA Pathology	RCV002466460	SCV002761514	pathogenic	Pitt-Hopkins-like syndrome 2	2021-01-25	criteria provided, single submitter	clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796068	SCV005417161	pathogenic	Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome		criteria provided, single submitter	clinical testing	PM2_Supporting+PVS1+PS4_Supporting
Dash Lab, University Health Network	RCV000787967	SCV000914238	likely pathogenic	Obesity	2018-07-01	no assertion criteria provided	research