ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter)

dbSNP: rs1574506914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002549222 SCV003459938 pathogenic Primary pulmonary hypertension 2022-09-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln720*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 812840). This premature translational stop signal has been observed in individual(s) with BMPR2-related conditions (PMID: 29650961, 32581362).
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003735 SCV001162178 pathogenic Pulmonary arterial hypertension no assertion criteria provided research

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