Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664628 | SCV000788624 | likely pathogenic | Alstrom syndrome | 2017-04-21 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074592 | SCV001240183 | likely pathogenic | Retinal dystrophy | 2019-01-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000664628 | SCV001810258 | likely pathogenic | Alstrom syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664628 | SCV002143993 | pathogenic | Alstrom syndrome | 2023-01-10 | 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: 550013). 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.Lys3901Asnfs*8) 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). |