Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000004180 | SCV001404206 | pathogenic | Alstrom syndrome | 2019-10-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp3664*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with Alstrom syndrome (PMID: 11941370). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3974). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000004180 | SCV000024346 | pathogenic | Alstrom syndrome | 2002-05-01 | no assertion criteria provided | literature only |