Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000000707 | SCV004293370 | pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant | 2023-07-09 | criteria provided, single submitter | clinical testing | This variant is also known as 6139,ins TT. This sequence change creates a premature translational stop signal (p.Arg185Leufs*14) 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). This premature translational stop signal has been observed in individual(s) with Protein C deficiency disease (PMID: 1301954). ClinVar contains an entry for this variant (Variation ID: 672). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000000707 | SCV000020857 | pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant | 1992-01-01 | no assertion criteria provided | literature only |