Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000210469 | SCV000266546 | pathogenic | Alstrom syndrome | criteria provided, single submitter | research | ||
Invitae | RCV000210469 | SCV002242505 | pathogenic | Alstrom syndrome | 2021-05-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of ALMS1-related conditions (PMID: 24595103). ClinVar contains an entry for this variant (Variation ID: 92192). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1432Glnfs*40) 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). |
Johns Hopkins Genetic Resources Core Facility; Johns Hopkins University | RCV000077808 | SCV000109648 | not provided | not provided | no assertion provided | not provided |