Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986772 | SCV001135894 | pathogenic | Alstrom syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000986772 | SCV002144157 | pathogenic | Alstrom syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser577*) 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 (rs756389027, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 22773737). ClinVar contains an entry for this variant (Variation ID: 801720). For these reasons, this variant has been classified as Pathogenic. |