ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1584A>C (p.Gln528His) (rs1554891680)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531496 SCV000632706 uncertain significance Juvenile polyposis syndrome 2017-06-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 528 of the BMPR1A protein (p.Gln528His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on BMPR1A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000776891 SCV000912558 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing

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