ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.961del (p.Arg321fs)

dbSNP: rs1085307276
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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 RCV001856889 SCV002235827 pathogenic Primary pulmonary hypertension 2021-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) referred for a possible indication of pulmonary arterial hypertension (PMID: 26387786). ClinVar contains an entry for this variant (Variation ID: 425847). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg321Glufs*14) 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).
Rare Disease Genomics Group, St George's University of London RCV000488540 SCV000576135 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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