ClinVar Miner

Submissions for variant NC_000002.12:g.(?_202530784)_(202532742_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032806 SCV001196113 likely pathogenic Pulmonary hypertension, primary, 1 2019-05-07 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 8-9 of the BMPR2 gene. It preserves the integrity of the reading frame. A similar deletion of exons 8-9 has been reported in an individual affected with pulmonary arterial hypertension (PMID: 16429403). This variant disrupts the p.Cys420 amino acid residue in BMPR2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15146475, 21737554, 21801371, 27453251). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001378022 SCV001575498 likely 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) 8-9 of the BMPR2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 16429403). This variant disrupts the p.Cys420 amino acid residue in BMPR2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15146475, 21737554, 21801371, 27453251). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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