Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411233 | SCV000486944 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411233 | SCV001227612 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2019-01-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in G6PC are known to be pathogenic (PMID: 8182131). This variant has not been reported in the literature in individuals with G6PC-related conditions. ClinVar contains an entry for this variant (Variation ID: 371379). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu46Serfs*19) in the G6PC gene. It is expected to result in an absent or disrupted protein product. |