ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.814C>T (p.Arg272Cys)

gnomAD frequency: 0.00004  dbSNP: rs121918154
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852227 SCV000899949 likely pathogenic Thromboembolism 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000000706 SCV002145523 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 272 of the PROC protein (p.Arg272Cys). This variant is present in population databases (rs121918154, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of protein C deficiency type 1 (PMID: 1868249, 8093743, 22627591, 31064749). It has also been observed to segregate with disease in related individuals. This variant is also known as Arg230Cys. ClinVar contains an entry for this variant (Variation ID: 671). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000000706 SCV002500905 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791189 SCV005413502 likely pathogenic not provided 2024-03-15 criteria provided, single submitter clinical testing PP5, PM1, PM2_moderate, PS4_moderate
OMIM RCV000000706 SCV000020856 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 1993-01-16 no assertion criteria provided literature only

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