ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.560G>T (p.Arg187Leu)

dbSNP: rs189059377
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361596 SCV001557575 uncertain significance Juvenile polyposis syndrome 2021-06-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 187 of the BMPR1A protein (p.Arg187Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant has not been reported in the literature in individuals with BMPR1A-related conditions. 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 and their clinical significance is uncertain. 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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