ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.376C>G (p.Arg126Gly) (rs781258592)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197535 SCV000254796 uncertain significance Juvenile polyposis syndrome 2015-01-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 126 of the BMPR1A protein (p.Arg126Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. 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.
Ambry Genetics RCV000563616 SCV000668335 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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