ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1148del (p.Met383fs)

dbSNP: rs1553509984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231274 SCV000629975 pathogenic Primary pulmonary hypertension 2017-01-26 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 9 of the BMPR2 mRNA (c.1148delT), causing a frameshift at codon 383. This creates a premature translational stop signal (p.Met383Argfs*6) and is expected to result in an absent or disrupted protein product.

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