Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000169206 | SCV000220460 | likely pathogenic | Alpha-1-antitrypsin deficiency | 2014-06-27 | criteria provided, single submitter | literature only | |
| Invitae | RCV000169206 | SCV001588860 | pathogenic | Alpha-1-antitrypsin deficiency | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr184*) in the SERPINA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SERPINA1 are known to be pathogenic (PMID: 25425243). This variant is present in population databases (rs199422210, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with SERPINA1-related conditions (PMID: 18024524). This variant is also known as p.Tyr160*. ClinVar contains an entry for this variant (Variation ID: 188854). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000169206 | SCV002786584 | pathogenic | Alpha-1-antitrypsin deficiency | 2022-01-17 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000169206 | SCV004203137 | likely pathogenic | Alpha-1-antitrypsin deficiency | 2023-04-06 | criteria provided, single submitter | clinical testing |