ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.997G>A (p.Ala333Thr)

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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 RCV003072771 SCV003472429 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 2022-09-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is also known as p.Ala291Thr. This missense change has been observed in individual(s) with protein C deficiency (PMID: 30439769). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 333 of the PROC protein (p.Ala333Thr).

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