ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.340G>C (p.Gly114Arg)

gnomAD frequency: 0.00001  dbSNP: rs374476971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000148747 SCV002258134 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2021-08-31 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 161341). This variant is also known as p.Gly72Arg. This missense change has been observed in individual(s) with protein C deficiency (PMID: 7792728). This variant is present in population databases (rs374476971, ExAC 0.005%). This sequence change replaces glycine with arginine at codon 114 of the PROC protein (p.Gly114Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002478414 SCV002787224 uncertain significance Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2021-07-07 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148747 SCV000190484 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2014-06-01 no assertion criteria provided research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243820 SCV002515555 uncertain significance Reduced protein C activity no assertion criteria provided clinical testing

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