Submissions for variant NM_004329.2(BMPR1A):c.887T>C (p.Ile296Thr) (rs1554891022)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000635478	SCV000756892	uncertain significance	Juvenile polyposis syndrome	2017-08-30	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with threonine at codon 296 of the BMPR1A protein (p.Ile296Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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