Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001384971 | SCV001584678 | pathogenic | Aspartylglucosaminuria | 2023-04-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1072287). This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln152*) 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). For these reasons, this variant has been classified as Pathogenic. |