Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045095 | SCV001208928 | pathogenic | Alstrom syndrome | 2021-07-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual affected with Alstrom syndrome (PMID: 25846608). ClinVar contains an entry for this variant (Variation ID: 842644). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1609Aspfs*2) 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). |
Génétique des Maladies du Développement, |
RCV001532997 | SCV001745873 | pathogenic | Intellectual disability | 2021-07-08 | criteria provided, single submitter | clinical testing | in trans with another pathogenic variant. Alstrom syndrome |
Fulgent Genetics, |
RCV001045095 | SCV002811595 | pathogenic | Alstrom syndrome | 2021-11-11 | criteria provided, single submitter | clinical testing |