ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1242G>A (p.Trp414Ter)

dbSNP: rs1558718572
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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 RCV000702225 SCV000831070 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant 2018-06-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PROC gene (p.Trp414*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acids of the PROC protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with venous thromboembolism and protein C deficiency (PMID: 22951146). Other truncations (p.Leu419Profs*6 and p.Trp444*) that lie downstream of this variant have been reported in individuals affected with thrombosis and protein C deficiency (PMID: 10669160, 22576310). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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