ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1180C>T (p.Arg394Trp)

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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 RCV002638518 SCV003522410 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 394 of the PROC protein (p.Arg394Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs759316085, ExAC 0.005%). This missense change has been observed in individual(s) with clinical features of protein C deficiency (PMID: 7831652). This variant is also known as 352 Arg to Trp at nucleotide 8769. 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"). 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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