ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1297G>A (p.Gly433Ser)

dbSNP: rs1266965698
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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 RCV001909209 SCV002176516 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 433 of the PROC protein (p.Gly433Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with protein C deficiency disease (PMID: 7482420, 29536478; Invitae). This variant is also known as 8886G>A, G391S. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003134220 SCV003812361 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing

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