ClinVar Miner

Submissions for variant NC_000002.11:g.(?_203329512)_(203397475_?)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 RCV004582421 SCV005067782 pathogenic Primary pulmonary hypertension 2023-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BMPR2 protein in which other variant(s) (Deletion (Exons 2-3)) have been determined to be pathogenic (PMID: 18503968, 21801371). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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) 2-9 of the BMPR2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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