Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000665844 | SCV000790030 | likely pathogenic | PMM2-congenital disorder of glycosylation | 2017-03-22 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000665844 | SCV001363466 | pathogenic | PMM2-congenital disorder of glycosylation | 2019-12-26 | criteria provided, single submitter | clinical testing | Variant summary: PMM2 c.104T>A (p.Leu35X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249438 control chromosomes. c.104T>A has been reported in the literature in at-least one individual neonate affected with Congenital Disorder of Glycosylation Type 1a (example, Turin_2008). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV000665844 | SCV001409980 | pathogenic | PMM2-congenital disorder of glycosylation | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550940). This premature translational stop signal has been observed in individual(s) with congenital disorder of glycosylation type 1a (PMID: 18571450). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu35*) 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). |
| Fulgent Genetics, |
RCV000665844 | SCV002804512 | pathogenic | PMM2-congenital disorder of glycosylation | 2021-07-29 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000665844 | SCV004205323 | pathogenic | PMM2-congenital disorder of glycosylation | 2022-03-31 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000665844 | SCV002089467 | pathogenic | PMM2-congenital disorder of glycosylation | 2020-09-21 | no assertion criteria provided | clinical testing |