ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.320C>A (p.Ser107Ter)

dbSNP: rs1085307208
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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 RCV001941639 SCV002230712 pathogenic Primary pulmonary hypertension 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser107*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with pulmonary arterial hypertension (PMID: 18356561, 19324947). ClinVar contains an entry for this variant (Variation ID: 1453966). For these reasons, this variant has been classified as Pathogenic.

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