ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.12del (p.Leu5fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286838 SCV001473457 likely pathogenic none provided 2020-04-15 criteria provided, single submitter clinical testing The BMPR2 c.12delG; p.Leu5Cysfs*42 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, other variants in the region that cause frameshifts are described in individuals with pulmonary hypertension (Machado 2015, Morisaki 2004). Considering available information, this variant is classified as likely pathogenic. References: Machado RD et al. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec;36(12):1113-27. Morisaki H et al. BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat. 2004 Jun;23(6):632.

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