Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411293 | SCV000486337 | likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2016-05-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411293 | SCV003261531 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2021-12-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the G6PC protein in which other variant(s) (p.Gln347*) have been determined to be pathogenic (PMID: 7573034, 8182131, 8733042, 10070617, 11949931, 28397058). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 370907). This variant has not been reported in the literature in individuals affected with G6PC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys287Asnfs*14) in the G6PC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 71 amino acid(s) of the G6PC protein. |