ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.829A>G (p.Ile277Val) (rs1060503400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460344 SCV000552873 uncertain significance Juvenile polyposis syndrome 2016-12-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 277 of the BMPR1A protein (p.Ile277Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000460344 SCV000785587 uncertain significance Juvenile polyposis syndrome 2017-09-25 criteria provided, single submitter clinical testing

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