Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000049353 | SCV000788463 | pathogenic | Aspartylglucosaminuria | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000049353 | SCV004292773 | pathogenic | Aspartylglucosaminuria | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr125Phefs*2) in the AGA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGA are known to be pathogenic (PMID: 7627186, 11309371). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with aspartylglucosaminuria (PMID: 11309371). ClinVar contains an entry for this variant (Variation ID: 55944). For these reasons, this variant has been classified as Pathogenic. |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049353 | SCV000081785 | probable-pathogenic | Aspartylglucosaminuria | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |