ClinVar Miner

Submissions for variant NC_000002.11:g.(?_203241529)_(203242283_?)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 RCV001383550 SCV001582716 pathogenic Primary pulmonary hypertension 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the BMPR2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of 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). A similar copy number variant has been observed in individuals with pulmonary arterial hypertension (PMID: 11115378, 29743074). For these reasons, this variant has been classified as Pathogenic.

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