Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000002489 | SCV000756220 | pathogenic | Arginase deficiency | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg291*) in the ARG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the ARG1 protein. This variant is present in population databases (rs104893940, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with arginase deficiency (PMID: 1598908, 19052914, 24103480; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2388). This variant disrupts a region of the ARG1 protein in which other variant(s) (p.Lys313Serfs*22) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Counsyl | RCV000002489 | SCV000788449 | likely pathogenic | Arginase deficiency | 2018-02-15 | criteria provided, single submitter | clinical testing | |
| 3billion | RCV000002489 | SCV002059070 | pathogenic | Arginase deficiency | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10% (PVS1_S). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000002388, PMID:1598908). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000020, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Baylor Genetics | RCV000002489 | SCV004208515 | pathogenic | Arginase deficiency | 2023-06-06 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000002489 | SCV000022647 | pathogenic | Arginase deficiency | 1992-06-01 | no assertion criteria provided | literature only |