ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.372C>G (p.Ser124Arg)

gnomAD frequency: 0.00001  dbSNP: rs939496684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001940604 SCV002195973 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 124 of the PROC protein (p.Ser124Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with protein C deficiency disease (PMID: 11336399). This variant is also known as 3189C>G S82R. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002484535 SCV002787203 uncertain significance Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2021-10-28 criteria provided, single submitter clinical testing

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