Submissions for variant NM_000312.4(PROC):c.41G>A (p.Trp14Ter)

dbSNP: rs758576042

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001248247	SCV001421718	pathogenic	Thrombophilia due to protein C deficiency, autosomal dominant	2022-02-22	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 972257). This variant is also known as Trp-29->term. This premature translational stop signal has been observed in individual(s) with protein C deficiency (PMID: 8462980). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp14*) 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).
Mayo Clinic Laboratories, Mayo Clinic	RCV003481033	SCV004226451	likely pathogenic	not provided	2022-07-13	criteria provided, single submitter	clinical testing	PM2, PVS1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002245902	SCV002515553	pathogenic	Reduced protein C activity		no assertion criteria provided	research