ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.969dup (p.His324fs)

dbSNP: rs1085307283
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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 RCV001851299 SCV002118921 pathogenic Primary pulmonary hypertension 2021-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 16717148, 31727138). ClinVar contains an entry for this variant (Variation ID: 425858). This variant is also described as c.968_969insT (p.H324fsX3) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His324Serfs*3) 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 RCV000488563 SCV000576147 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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