Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409367 | SCV000486859 | likely pathogenic | PMM2-congenital disorder of glycosylation | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Hudson |
RCV000409367 | SCV000992592 | uncertain significance | PMM2-congenital disorder of glycosylation | 2019-07-03 | criteria provided, single submitter | research | |
Invitae | RCV000409367 | SCV001574940 | pathogenic | PMM2-congenital disorder of glycosylation | 2024-01-13 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 69 of the PMM2 protein (p.Pro69Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of PMM2-related conditions (PMID: 22801829, 31391289). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 371307). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PMM2 protein function with a positive predictive value of 95%. 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. |
Gene |
RCV001545880 | SCV001765295 | likely pathogenic | not provided | 2020-04-21 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22801829, 15844218, 12357336, 10527672, 19862844, 11156536, 31391289) |
Baylor Genetics | RCV000409367 | SCV004205275 | pathogenic | PMM2-congenital disorder of glycosylation | 2023-07-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000409367 | SCV002089472 | likely pathogenic | PMM2-congenital disorder of glycosylation | 2020-12-15 | no assertion criteria provided | clinical testing |