Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670616 | SCV000795491 | likely pathogenic | Alstrom syndrome | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670616 | SCV001227698 | pathogenic | Alstrom syndrome | 2022-10-19 | 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: 554903). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). This variant is present in population databases (rs761071372, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu2267*) 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). |