Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000634805 | SCV000756149 | pathogenic | Alstrom syndrome | 2023-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2058Phefs*17) 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 present in population databases (rs759603306, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 25846608). ClinVar contains an entry for this variant (Variation ID: 529393). For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV000634805 | SCV002082822 | pathogenic | Alstrom syndrome | 2021-07-21 | no assertion criteria provided | clinical testing | |
Department of Pediatrics, |
RCV000634805 | SCV004046848 | pathogenic | Alstrom syndrome | no assertion criteria provided | clinical testing |