Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666481 | SCV000790784 | likely pathogenic | Alstrom syndrome | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002275098 | SCV002562386 | pathogenic | not provided | 2022-08-11 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29588463) |
Fulgent Genetics, |
RCV000666481 | SCV002792795 | pathogenic | Alstrom syndrome | 2022-05-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666481 | SCV004540319 | pathogenic | Alstrom syndrome | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1418Glyfs*55) 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 Alström syndrome (PMID: 29588463). ClinVar contains an entry for this variant (Variation ID: 551424). For these reasons, this variant has been classified as Pathogenic. |