ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1237A>G (p.Thr413Ala)

gnomAD frequency: 0.00001  dbSNP: rs572021052
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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 RCV000232324 SCV000284565 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2022-02-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 413 of the PROC protein (p.Thr413Ala). This variant is present in population databases (rs572021052, gnomAD no frequency). This missense change has been observed in individual(s) with protein C deficiency (PMID: 7482420, 31064749). This variant is also known as 8826A>G and T371A. ClinVar contains an entry for this variant (Variation ID: 237632). 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"). 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851673 SCV000899457 likely pathogenic Reduced protein C activity 2019-02-01 criteria provided, single submitter research

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