ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2580del (p.Asn861fs)

dbSNP: rs1085307395
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230969 SCV000831772 pathogenic Primary pulmonary hypertension 2023-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn861Ilefs*11) 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). This premature translational stop signal has been observed in individuals with pulmonary arterial hypertension (PMID: 10903931, 10973254, 16717148). It has also been observed to segregate with disease in related individuals. This variant is also known as c.2579delT and c.2579-2580delT. ClinVar contains an entry for this variant (Variation ID: 425996). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002291646 SCV002583971 pathogenic not provided 2022-04-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31727138, 10973254)
OMIM RCV000488482 SCV000029558 pathogenic Pulmonary hypertension, primary, 1 2000-09-01 no assertion criteria provided literature only
Rare Disease Genomics Group, St George's University of London RCV000488482 SCV000576298 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
Wendy Chung Laboratory, Columbia University Medical Center RCV001823923 SCV002073556 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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