Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clingen Pulmonary Hypertension Variant Curation Expert Panel, |
RCV004548418 | SCV005043290 | uncertain significance | Pulmonary arterial hypertension | 2024-04-26 | reviewed by expert panel | curation | The BMPR2 c.1882A>G variant is a missense variant predicted to cause a threonine to alanine substitution at amino acid position 628 (p.(Thr628Ala)). The highest population minor allele frequency in gnomAD v.2.1.1 controls is 0.05% in the African/African American population which does not meet the threshold for PM2 (<0.01%), BS1 (>=0.1%), or BA1 (>5%) as defined by the ClinGen Pulmonary Hypertension VCEP. The REVEL score of 0.386 does not meet the threshold for BP4 (<=0.25)or PP3 (>=0.75). The amino acid substitution occurs in the c-terminal domain which is not a well-established functional domain, so PM1 was not met. Criteria not evaluated included PP1, PM6, and PS2 due to the absence of segregation evidence. Functional data is unavailable for this variant, so BS3 and PS3 were not evaluated. In summary, no criteria could be applied to this variant. It remains classified as a variant of uncertain significance (VUS) for pulmonary arterial hypertension based on the ACMG/AMP criteria evaluated, as specified by the ClinGen Pulmonary Hypertension VCEP (VCEP specification version 1.1, 1/18/2024). |
| Labcorp Genetics |
RCV002947470 | SCV003265177 | benign | Primary pulmonary hypertension | 2023-11-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002938496 | SCV003737912 | uncertain significance | Inborn genetic diseases | 2023-11-27 | criteria provided, single submitter | clinical testing | The p.T628A variant (also known as c.1882A>G), located in coding exon 12 of the BMPR2 gene, results from an A to G substitution at nucleotide position 1882. The threonine at codon 628 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003147804 | SCV003835212 | uncertain significance | Pulmonary hypertension, primary, 1 | 2022-05-24 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003147805 | SCV003836448 | uncertain significance | Pulmonary venoocclusive disease 1 | 2022-05-24 | criteria provided, single submitter | clinical testing |