ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.431-6T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804484 SCV000944395 uncertain significance Juvenile polyposis syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the BMPR1A gene. It does not directly change the encoded amino acid sequence of the BMPR1A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with juvenile polyposis syndrome (JPS) in a family (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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