Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075532 | SCV001241158 | pathogenic | Retinal dystrophy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002554760 | SCV003524661 | pathogenic | Alstrom syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 867044). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 15689433, 32349990). This variant is present in population databases (rs774594040, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser1646*) 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). |