ClinVar Miner

Submissions for variant NC_000002.11:g.(?_203378422)_(203424669_?)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 RCV004582422 SCV005067783 pathogenic Primary pulmonary hypertension 2023-04-19 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) (p.Arg491Gln) have been determined to be pathogenic (PMID: 10903931, 32581362). 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: 21801371). This variant is a gross deletion of the genomic region encompassing exon(s) 4-13 of the BMPR2 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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