Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409315 | SCV000485528 | likely pathogenic | Aspartylglucosaminuria | 2015-12-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409315 | SCV000831375 | pathogenic | Aspartylglucosaminuria | 2023-02-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp158*) 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 present in population databases (rs745976989, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. ClinVar contains an entry for this variant (Variation ID: 370266). For these reasons, this variant has been classified as Pathogenic. |