Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235387 | SCV000959605 | pathogenic | Juvenile polyposis syndrome | 2018-07-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). This variant has not been reported in the literature in individuals with BMPR1A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys82Alafs*5) in the BMPR1A gene. It is expected to result in an absent or disrupted protein product. |