ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)

gnomAD frequency: 0.00138  dbSNP: rs199784029
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723727 SCV000111406 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000723727 SCV000241921 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Invitae RCV001082855 SCV000562371 likely benign Pitt-Hopkins-like syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000515350 SCV000611417 uncertain significance Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316231 SCV000850043 uncertain significance Inborn genetic diseases 2018-07-25 criteria provided, single submitter clinical testing The p.P108S variant (also known as c.322C>T), located in coding exon 1 of the NRXN1 gene, results from a C to T substitution at nucleotide position 322. The proline at codon 108 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in 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.
Illumina Laboratory Services, Illumina RCV001082855 SCV001302136 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV004537325 SCV004753799 likely benign NRXN1-related disorder 2023-07-06 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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251858 SCV001427603 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.