ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.632G>T (p.Arg211Leu)

dbSNP: rs199469476
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343833 SCV001537842 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2020-10-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 211 of the PROC protein (p.Arg211Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant has not been reported in the literature in individuals with PROC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg211 amino acid residue in PROC. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10942114, 28111891, 3185623, 18954896, 24162787, 10805275, 8165644, 18573519). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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