ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr)

dbSNP: rs1085307325
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376627 SCV001218684 pathogenic Primary pulmonary hypertension 2022-02-28 criteria provided, single submitter clinical testing This missense change has been observed in individuals with pulmonary arterial hypertension (PMID: 15146475, 21737554, 21801371; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 420 of the BMPR2 protein (p.Cys420Tyr). ClinVar contains an entry for this variant (Variation ID: 425907). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys420 amino acid residue in BMPR2. Other variant(s) that disrupt this residue have been observed in individuals with BMPR2-related conditions (PMID: 21801371, 27453251), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BMPR2 protein function.
Rare Disease Genomics Group, St George's University of London RCV000488809 SCV000576200 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.