Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214931 | SCV001386640 | pathogenic | Juvenile polyposis syndrome | 2019-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp319*) in the BMPR1A gene. It is expected to result in an absent or disrupted protein product. 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 conditions. This variant is not present in population databases (ExAC no frequency). |