Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669519 | SCV000794278 | likely pathogenic | Alstrom syndrome | 2017-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669519 | SCV004384928 | pathogenic | Alstrom syndrome | 2023-05-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 553972). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2908Leufs*19) 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). |