ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1306A>G (p.Ile436Val) (rs863224718)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199311 SCV000254794 uncertain significance Juvenile polyposis syndrome 2015-05-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 436 of the BMPR1A protein (p.Ile436Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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