ClinVar Miner

Submissions for variant NC_000002.12:g.(?_202514864)_(202514989_?)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 RCV001033955 SCV001197263 pathogenic Pulmonary hypertension, primary, 1 2019-12-02 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the BMPR2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 5 has been reported in an individual referred for genetic testing for pulmonary arterial hypertension (PMID: 26387786). Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001383552 SCV001582718 pathogenic Primary pulmonary hypertension 2019-11-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). A similar deletion of exon 5 has been reported in an individual referred for genetic testing for pulmonary arterial hypertension (PMID: 26387786). This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the BMPR2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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