ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.470T>G (p.Leu157Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685749 SCV000813245 uncertain significance Juvenile polyposis syndrome 2018-06-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 157 of the BMPR1A protein (p.Leu157Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs751260747, ExAC 0.006%). This variant has not been reported in the literature in individuals with BMPR1A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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