Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389287 | SCV001590596 | pathogenic | Alstrom syndrome | 2023-08-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg270*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of ALMS1-related conditions (PMID: 26047050, 26077327, 29588463). ClinVar contains an entry for this variant (Variation ID: 812221). |
MGZ Medical Genetics Center | RCV001389287 | SCV002580396 | pathogenic | Alstrom syndrome | 2021-11-22 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV002267747 | SCV001160896 | pathogenic | Cone-rod dystrophy | 2019-06-23 | no assertion criteria provided | research | |
Natera, |
RCV001389287 | SCV002080391 | pathogenic | Alstrom syndrome | 2020-07-29 | no assertion criteria provided | clinical testing |