ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1554G>C (p.Lys518Asn) (rs1554891668)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538426 SCV000632704 uncertain significance Juvenile polyposis syndrome 2017-05-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 518 of the BMPR1A protein (p.Lys518Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. 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 (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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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