Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537166 | SCV000631753 | pathogenic | Alstrom syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg352*) 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 Alström syndrome and cone-rod dystrophy (PMID: 17594715, 25846608, 26992781). ClinVar contains an entry for this variant (Variation ID: 459845). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000537166 | SCV001135893 | pathogenic | Alstrom syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000537166 | SCV001132118 | likely pathogenic | Alstrom syndrome | 2017-12-01 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000537166 | SCV002080401 | pathogenic | Alstrom syndrome | 2020-09-04 | no assertion criteria provided | clinical testing |