Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813204 | SCV000953549 | pathogenic | PMM2-congenital disorder of glycosylation | 2023-12-30 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the PMM2 gene. It does not change the encoded amino acid sequence of the PMM2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with clinical features of PMM2-congenital disorder of glycosylation (PMID: 28373276). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 656718). Studies have shown that this variant alters PMM2 gene expression (PMID: 28373276). For these reasons, this variant has been classified as Pathogenic. |
Molecular Biology Laboratory, |
RCV000813204 | SCV001425248 | pathogenic | PMM2-congenital disorder of glycosylation | 2020-02-01 | criteria provided, single submitter | research | |
Gene |
RCV002225740 | SCV002504342 | pathogenic | not provided | 2019-08-15 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect (Cabezas et al., 2017); This variant is associated with the following publications: (PMID: 28373276, 32595772, 33580824, 32841164, 34055813) |
Baylor Genetics | RCV000813204 | SCV004205271 | pathogenic | PMM2-congenital disorder of glycosylation | 2023-07-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000813204 | SCV002089457 | pathogenic | PMM2-congenital disorder of glycosylation | 2021-02-28 | no assertion criteria provided | clinical testing |