Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673178 | SCV000798353 | likely pathogenic | Alstrom syndrome | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673178 | SCV004292590 | pathogenic | Alstrom syndrome | 2023-05-26 | 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: 557087). This premature translational stop signal has been observed in individual(s) with clinical features of Alstrom Syndrome (PMID: 25846608). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr2163Lysfs*4) 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). |