ClinVar Miner

Submissions for variant NC_000002.11:g.(?_203329522)_(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 RCV001939845 SCV002186721 pathogenic Primary pulmonary hypertension 2020-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 26387786). This variant is a gross deletion of the genomic region encompassing exon(s) 2-5 of the BMPR2 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395).

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