Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673350 | SCV000798540 | likely pathogenic | Pituitary hormone deficiency, combined, 2 | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001388459 | SCV001589458 | pathogenic | not provided | 2021-06-24 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PROP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the PROP1 gene (p.Ser130Alafs*36). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 97 amino acids of the PROP1 protein. This variant disrupts the C-terminus of the PROP1 protein. Other variant(s) that disrupt this region (p.Trp194*) have been determined to be pathogenic (PMID: 15941866, 20381582, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000673350 | SCV004206533 | likely pathogenic | Pituitary hormone deficiency, combined, 2 | 2023-08-19 | criteria provided, single submitter | clinical testing |