ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.813G>A (p.Trp271Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795509 SCV000934974 pathogenic Juvenile polyposis syndrome 2018-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp271*) in the BMPR1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). A different nucleotide change that produces the same nonsense mutation (c.812G>A, p.Trp271*) has been observed to segregate with Juvenile polyposis syndrome in a family (PMID: 11381269). Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.

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