ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.917A>G (p.Tyr306Cys) (rs955604329)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464837 SCV000552885 uncertain significance Juvenile polyposis syndrome 2017-01-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 306 of the BMPR1A protein (p.Tyr306Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual affected with ureteropelvic junction obstruction (PMID: 26489027). 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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