Total submissions: 3
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, |
RCV000851918 | SCV000899999 | likely pathogenic | Deep venous thrombosis | 2019-02-01 | criteria provided, single submitter | research | |
Genetics and Molecular Pathology, |
RCV000689154 | SCV002556901 | likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant | 2019-09-26 | criteria provided, single submitter | clinical testing |