Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000791278 | SCV000930568 | likely pathogenic | Alstrom syndrome | 2019-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000791278 | SCV002229511 | pathogenic | Alstrom syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 638587). This premature translational stop signal has been observed in individual(s) with clinical features of Alström syndrome (PMID: 31607746). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1582*) 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). |