Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816606 | SCV000957123 | pathogenic | Alstrom syndrome | 2022-07-25 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 25846608). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 659575). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys2922*) 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). |
Gene |
RCV003223681 | SCV003919632 | likely pathogenic | not provided | 2022-10-19 | criteria provided, single submitter | clinical testing | Identified in patient(s) with features of Alstom syndrome in published literature, although additional clinical and segregation information was not provided (Marshall et al., 2015); Nonsense 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: 25846608) |