Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001199643 | SCV001162407 | pathogenic | Alstrom syndrome | 2020-01-09 | criteria provided, single submitter | research | |
Institute of Medical Genetics and Applied Genomics, |
RCV001543586 | SCV001762257 | pathogenic | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001199643 | SCV004316269 | pathogenic | Alstrom syndrome | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2597*) 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: 32531858). ClinVar contains an entry for this variant (Variation ID: 813154). For these reasons, this variant has been classified as Pathogenic. |