Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002038901 | SCV002309463 | uncertain significance | not provided | 2021-04-23 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 15 of the COL9A1 gene. It does not directly change the encoded amino acid sequence of the COL9A1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL9A1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Gene |
RCV002038901 | SCV005421906 | uncertain significance | not provided | 2024-06-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |