Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001754194 | SCV001987201 | uncertain significance | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Located in a region that tolerates variation and lacks pathogenic variants; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV003120657 | SCV003789424 | uncertain significance | Autosomal recessive DOPA responsive dystonia | 2022-07-09 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the TH gene. It does not directly change the encoded amino acid sequence of the TH protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1302305). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |