ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.346del (p.Cys116fs)

dbSNP: rs2105962353
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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 RCV001987486 SCV002224245 pathogenic Primary pulmonary hypertension 2021-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BMPR2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys116Alafs*36) 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).

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