Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670021 | SCV000794830 | likely pathogenic | Alstrom syndrome | 2017-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670021 | SCV002232935 | pathogenic | Alstrom syndrome | 2021-03-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 554397). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1994Argfs*13) 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). |