ClinVar Miner

Submissions for variant NC_000002.11:g.(?_203378432)_(203379712_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388555 SCV001589574 pathogenic Primary pulmonary hypertension 2020-08-20 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 4-5 of the BMPR2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 19555857, 15775752, 21920918, 31727138). Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.

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