Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811584 | SCV001157949 | uncertain significance | not provided | 2021-11-14 | criteria provided, single submitter | clinical testing | The BMPR2 c.529G>A; p.Gly177Arg variant (rs1574486033) is reported in the literature in an individual affected with pulmonary arterial hypertension (Zhu 2019). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant occurs at the last nucleotide in BMPR2 exon 4, and computational algorithms (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. However, mRNA studies would be required to confirm an effect on splicing. Given the lack of clinical and functional data, the significance of the c.529G>A; p.Gly177Arg variant is uncertain at this time. References: Zhu N et al. Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Med. 2019 Nov 14;11(1):69. PMID: 31727138. |
Wendy Chung Laboratory, |
RCV001823930 | SCV002073590 | not provided | Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension | no assertion provided | literature only |