Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000364848 | SCV000345974 | pathogenic | not provided | 2016-09-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000984239 | SCV001203669 | pathogenic | Aspartylglucosaminuria | 2023-08-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg107*) 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 (rs765070743, gnomAD 0.01%). 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: 291257). For these reasons, this variant has been classified as Pathogenic. |
Myeli |
RCV000984239 | SCV002820975 | pathogenic | Aspartylglucosaminuria | 2022-09-01 | criteria provided, single submitter | research | |
Baylor Genetics | RCV000984239 | SCV004214231 | pathogenic | Aspartylglucosaminuria | 2023-03-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000984239 | SCV001132323 | likely pathogenic | Aspartylglucosaminuria | 2015-08-05 | no assertion criteria provided | clinical testing |