ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)

dbSNP: rs2105712248
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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 RCV001381429 SCV001579812 pathogenic Primary pulmonary hypertension 2020-11-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 31727138). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn817Ilefs*25) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395).
Wendy Chung Laboratory, Columbia University Medical Center RCV001823941 SCV002073554 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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