ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter)

dbSNP: rs1589290773
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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 RCV000795509 SCV000934974 pathogenic Juvenile polyposis syndrome 2020-01-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). This nonsense change has been observed in individual(s) with juvenile polyposis syndrome (PMID: 11381269). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 642114). This variant is not present in population databases (ExAC no frequency). 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.

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