ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.962C>T (p.Pro321Leu)

gnomAD frequency: 0.00001  dbSNP: rs1321566264
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689154 SCV000816794 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2023-12-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 321 of the PROC protein (p.Pro321Leu). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individuals with protein C deficiency (PMID: 8499565, 17152060, 31254973; Invitae). This variant is also known as p.Pro279Leu. ClinVar contains an entry for this variant (Variation ID: 568712). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PROC protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851918 SCV000899999 likely pathogenic Deep venous thrombosis 2019-02-01 criteria provided, single submitter research
Genetics and Molecular Pathology, SA Pathology RCV000689154 SCV002556901 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2019-09-26 criteria provided, single submitter 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.