Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clingen Pulmonary Hypertension Variant Curation Expert Panel, |
RCV004552005 | SCV005043324 | uncertain significance | Pulmonary arterial hypertension | 2024-04-30 | reviewed by expert panel | curation | The BMPR2 c.1087C>G is a missense variant predicted to cause substitution of leucine to valine at amino acid position 363 ((p.(Leu363Val)). This variant is absent from gnomAD version2.1.1 controls and v3.1.2 (PM2_supporting met). The variant resides in the highly conserved protein kinase domain without functional evidence for a critical or non-critical role on protein function (PM1 met). The variant is predicted to have no effect on protein function with REVEL score of 0.24, which meets the threshold for BP4 (<0.25). There is another individual with the same variant in ClinVar but with insufficient evidence for a pulmonary arterial hypertension diagnosis. In summary, the variant meets the criteria to be classified as a variant of unknown significance (VUS) for pulmonary arterial hypertension based on the ACMG/AMP criteria applied, as specified by the ClinGen Pulmonary Hypertension VCEP: PM2_supporting, PM1, BP4 (VCEP specification version 1.1, 1/18/2024). |
| Gene |
RCV001756992 | SCV001995264 | uncertain significance | not provided | 2019-10-29 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV002538858 | SCV003513732 | benign | Primary pulmonary hypertension | 2022-02-08 | criteria provided, single submitter | clinical testing |