Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001582319 | SCV001821165 | pathogenic | not provided | 2022-06-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 27535533) |
| Labcorp Genetics |
RCV001827532 | SCV002131485 | pathogenic | Alstrom syndrome | 2023-11-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn3923Thrfs*4) 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 variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1216990). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV001827532 | SCV002780454 | likely pathogenic | Alstrom syndrome | 2021-11-02 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001827532 | SCV002079030 | likely pathogenic | Alstrom syndrome | 2021-09-16 | no assertion criteria provided | clinical testing |