Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000727046 | SCV000705138 | pathogenic | not provided | 2017-01-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000596556 | SCV000824171 | pathogenic | Congenital disorder of glycosylation type 1t | 2018-02-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg217*) in the PGM1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770066171, ExAC 0.006%). This variant has not been reported in the literature in individuals with PGM1-related disease. Loss-of-function variants in PGM1 are known to be pathogenic (PMID: 22492991). For these reasons, this variant has been classified as Pathogenic. |