Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001851325 | SCV002246097 | pathogenic | not provided | 2021-08-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with achromatopsia (PMID: 15657609, 28795510). ClinVar contains an entry for this variant (Variation ID: 427651). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ala228Glyfs*3) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 28795510). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000497518 | SCV005726096 | pathogenic | Achromatopsia 3 | 2024-11-21 | criteria provided, single submitter | clinical testing | Variant summary: CNGB3 c.682dupG (p.Ala228GlyfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251368 control chromosomes. c.682dupG has been reported in the literature in individuals affected with Achromatopsia (example: Mayer_2017). These data indicate that the variant may be associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 28795510). ClinVar contains an entry for this variant (Variation ID: 427651). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Molecular Genetics Laboratory, |
RCV000497518 | SCV000575781 | pathogenic | Achromatopsia 3 | 2017-03-27 | no assertion criteria provided | research |