ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.519C>G (p.Cys173Trp) (rs863224721)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196338 SCV000254798 uncertain significance Juvenile polyposis syndrome 2015-03-31 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tryptophan at codon 173 of the BMPR1A protein (p.Cys173Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. This variant has not been published in the literature and is not present in population databases. 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: "Benign"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000573423 SCV000668294 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000573423 SCV000912934 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.