Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
RCV001250205 | SCV001424474 | likely pathogenic | Glycogen storage disease type IXc | criteria provided, single submitter | clinical testing | ||
Invitae | RCV003770291 | SCV004611955 | pathogenic | Glycogen storage disease IXc | 2023-01-30 | 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: 973563). This premature translational stop signal has been observed in individual(s) with clinical features of PHKG2-related conditions (PMID: 31508908, 32697758). This variant is present in population databases (rs772912966, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg152*) in the PHKG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKG2 are known to be pathogenic (PMID: 8896567, 17689125, 21646031). |