ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.506_508TCT[1] (p.Phe170del) (rs878854669)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229887 SCV000288394 uncertain significance Juvenile polyposis syndrome 2016-01-23 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 7 of the BMPR1A mRNA (c.509_511delTCT). This leads to the deletion of 1 amino acid residue in the BMPR1A protein (p.Phe170del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BMPR1A-related disease. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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