Submissions for variant NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)

gnomAD frequency: 0.00013  dbSNP: rs80293130

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000728599	SCV000241881	likely benign	not provided	2020-09-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000188271	SCV000248279	uncertain significance	not specified	2014-07-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000515422	SCV000611415	uncertain significance	Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome	2017-05-23	criteria provided, single submitter	clinical testing
Invitae	RCV000706193	SCV000835231	likely benign	Pitt-Hopkins-like syndrome 2	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317133	SCV000851423	uncertain significance	Inborn genetic diseases	2018-06-12	criteria provided, single submitter	clinical testing	The p.S860N variant (also known as c.2579G>A), located in coding exon 13 of the NRXN1 gene, results from a G to A substitution at nucleotide position 2579. The serine at codon 860 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Eurofins Ntd Llc (ga)	RCV000728599	SCV000856192	uncertain significance	not provided	2017-08-23	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000728599	SCV002541829	uncertain significance	not provided	2021-07-21	criteria provided, single submitter	clinical testing