Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002526009 | SCV003524840 | pathogenic | Primary pulmonary hypertension | 2021-11-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 426006). This premature translational stop signal has been observed in individuals with pulmonary arterial hypertension (PMID: 25429696; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln918*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). |
Rare Disease Genomics Group, |
RCV000488752 | SCV000576311 | pathogenic | Pulmonary hypertension, primary, 1 | no assertion criteria provided | literature only |