Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001379104 | SCV001576838 | pathogenic | Glycogen storage disease IXa1 | 2023-07-14 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the PHKA2 mRNA. The next in-frame methionine is located at codon 59. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with glycogen storage disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 1067758). This variant disrupts a region of the PHKA2 protein in which other variant(s) (p.Arg45Trp) have been determined to be pathogenic (PMID: 21646031, 25070466, 28627441; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV002292634 | SCV002585113 | likely pathogenic | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | PHKA2: PM2, PVS1:Moderate, PM3:Supporting, PP4 |