Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000426961 | SCV000517039 | pathogenic | not provided | 2015-05-20 | criteria provided, single submitter | clinical testing | The Q53X variant in the PMM2 gene has not been reported previously as a pathogenic variant noras a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The Q53X variant wasnot observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretQ53X as a pathogenic variant. |
| Labcorp Genetics |
RCV002524853 | SCV003307970 | pathogenic | PMM2-congenital disorder of glycosylation | 2023-09-08 | 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: 379715). This variant has not been reported in the literature in individuals affected with PMM2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln53*) in the PMM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). |
| Baylor Genetics | RCV002524853 | SCV005056372 | likely pathogenic | PMM2-congenital disorder of glycosylation | 2024-02-02 | criteria provided, single submitter | clinical testing |