Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671250 | SCV000796207 | likely pathogenic | Alstrom syndrome | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671250 | SCV001204235 | pathogenic | Alstrom syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln3379Thrfs*12) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 555428). For these reasons, this variant has been classified as Pathogenic. |