Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231274 | SCV000629975 | pathogenic | Primary pulmonary hypertension | 2017-01-26 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 9 of the BMPR2 mRNA (c.1148delT), causing a frameshift at codon 383. This creates a premature translational stop signal (p.Met383Argfs*6) and is expected to result in an absent or disrupted protein product. |