Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000119803 | SCV002215359 | pathogenic | PGM1-congenital disorder of glycosylation | 2022-10-31 | 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: 133290). This premature translational stop signal has been observed in individual(s) with PGM1 deficiency (PMID: 24499211). This variant is present in population databases (rs758688811, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg221Valfs*13) in the PGM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PGM1 are known to be pathogenic (PMID: 22492991). |
OMIM | RCV000119803 | SCV000154728 | pathogenic | PGM1-congenital disorder of glycosylation | 2014-02-06 | no assertion criteria provided | literature only |