Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668122 | SCV000792673 | likely pathogenic | Aspartylglucosaminuria | 2017-07-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668122 | SCV004671238 | pathogenic | Aspartylglucosaminuria | 2023-06-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552792). This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is present in population databases (rs764598121, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu29Argfs*19) 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). |