ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter)

dbSNP: rs1230919713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041170 SCV001204771 pathogenic Juvenile polyposis syndrome 2019-09-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BMPR1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr278*) in the BMPR1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001041170 SCV004043150 pathogenic Juvenile polyposis syndrome 2023-05-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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