ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.974C>T (p.Pro325Leu)

dbSNP: rs1602034625
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990791 SCV001141829 uncertain significance Ornithine carbamoyltransferase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000990791 SCV002038577 uncertain significance Ornithine carbamoyltransferase deficiency 2021-04-07 criteria provided, single submitter clinical testing The OTC c.974C>T (p.Pro325Leu) variant is a missense variant. A literature search was conducted for the gene, cDNA change, and amino acid change. No publications were identified through this search. This variant is not found in version 2.1.1 or version 3.1.1 of the Genome Aggregation Database despite its location in a region of good sequencing coverage, which suggests the variant is rare. In silico tools differ in their predictions of the functional consequence of this variant. Based on the available evidence, the p.Pro325Leu variant is classified as a variant of uncertain significance for ornithine transcarbamylase deficiency.

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.