ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.560G>A (p.Trp187Ter)

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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 RCV002651509 SCV003524948 pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2022-04-05 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with protein C deficiency (PMID: 8292730). This sequence change creates a premature translational stop signal (p.Trp187*) in the PROC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PROC are known to be pathogenic (PMID: 17152060). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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