Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671260 | SCV000796217 | likely pathogenic | Alstrom syndrome | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671260 | SCV001380855 | pathogenic | Alstrom syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr727Leufs*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 present in population databases (no rsID available, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 555437). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000671260 | SCV002807647 | pathogenic | Alstrom syndrome | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671260 | SCV002080448 | pathogenic | Alstrom syndrome | 2020-07-28 | no assertion criteria provided | clinical testing |