ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1488T>G (p.Cys496Trp)

dbSNP: rs2106042155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029280 SCV002303963 likely pathogenic Primary pulmonary hypertension 2020-11-11 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys496 amino acid residue in BMPR2. Other variant(s) that disrupt this residue have been observed in individuals with BMPR2-related conditions (PMID: 29743074, 16429395), 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. This variant has been observed in individual(s) with clinical features of pulmonary arterial hypertension (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 496 of the BMPR2 protein (p.Cys496Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan.

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