ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.66A>C (p.Gln22His) (rs786204152)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168143 SCV000218803 uncertain significance Juvenile polyposis syndrome 2014-11-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 22 of the BMPR1A protein (p.Gln22His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This sequence change 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 sequence change 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758776 SCV000887607 uncertain significance not provided 2017-09-12 criteria provided, single submitter clinical testing

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