Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000004176 | SCV004292596 | pathogenic | Alstrom syndrome | 2023-09-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2795*) 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 premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 11941369). ClinVar contains an entry for this variant (Variation ID: 3970). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000004176 | SCV000024342 | pathogenic | Alstrom syndrome | 2002-05-01 | no assertion criteria provided | literature only |