ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1473A>G (p.Glu491=) (rs557832530)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472889 SCV000552872 uncertain significance Juvenile polyposis syndrome 2016-08-08 criteria provided, single submitter clinical testing This sequence change affects codon 491 of the BMPR1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BMPR1A protein. 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. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV000602508 SCV000728357 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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