ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.631C>T (p.Arg211Trp)

gnomAD frequency: 0.00001  dbSNP: rs121918143
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000000693 SCV000190475 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Invitae RCV000000693 SCV000817071 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2023-06-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs121918143, gnomAD 0.02%). For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PROC protein function. ClinVar contains an entry for this variant (Variation ID: 659). This variant is also known as Arg157Trp or Arg169Trp. This missense change has been observed in individuals with purpura fulminans and severe protein C deficiency and venous thromboembolism and partial protein C deficiency (PMID: 3185623, 8165644, 10805275, 10942114, 18573519, 18954896, 24162787, 28111891). It has also been observed to segregate with disease in related individuals. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 211 of the PROC protein (p.Arg211Trp).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851836 SCV000899837 likely pathogenic Reduced protein C activity 2019-02-01 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000000694 SCV004809565 likely pathogenic Thrombophilia due to protein C deficiency, autosomal recessive 2024-04-04 criteria provided, single submitter clinical testing
OMIM RCV000000693 SCV000020843 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2000-06-01 no assertion criteria provided literature only
OMIM RCV000000694 SCV000020844 pathogenic Thrombophilia due to protein C deficiency, autosomal recessive 2000-06-01 no assertion criteria provided literature only

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