Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674590 | SCV000799952 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674590 | SCV001378072 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2019-05-31 | criteria provided, single submitter | clinical testing | This variant has been observed in an individual affected with glycogen storage disease (PMID: 10070617). ClinVar contains an entry for this variant (Variation ID: 558339). This sequence change creates a premature translational stop signal (p.Tyr172*) in the G6PC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV000674590 | SCV002093312 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2017-03-17 | no assertion criteria provided | clinical testing |