Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050007 | SCV001214093 | pathogenic | Alstrom syndrome | 2023-10-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser3326*) 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 (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 846651). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001050007 | SCV002804634 | likely pathogenic | Alstrom syndrome | 2021-07-29 | criteria provided, single submitter | clinical testing |