ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.52G>A (p.Gly18Ser)

gnomAD frequency: 0.00006  dbSNP: rs146793243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000148743 SCV000190480 uncertain significance 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000148743 SCV000944594 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 18 of the PROC protein (p.Gly18Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs146793243, ExAC 0.03%). This missense change has been observed in individual(s) with protein C deficiency (PMID: 22627591). This variant is also known as Gly25Ser. ClinVar contains an entry for this variant (Variation ID: 161337). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002483293 SCV002777550 uncertain significance Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2021-10-20 criteria provided, single submitter clinical testing

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