Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410536 | SCV000485535 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2015-12-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410536 | SCV002510620 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2022-10-05 | 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: 370273). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type Ia (PMID: 28397058). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln27*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). |