Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000984484 | SCV001132530 | uncertain significance | Arts syndrome | 2018-11-15 | criteria provided, single submitter | research | The hemizygous p.Pro141Leu variant in PRPS1 was identified by our study in one individual with Arts Syndrome. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Pro141Leu variant is uncertain. |