ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.171C>G (p.Arg57=) (rs753456441)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559897 SCV000650581 uncertain significance Aortic valve disease 2 2018-09-21 criteria provided, single submitter clinical testing This sequence change affects codon 57 of the SMAD6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMAD6 protein. The frequency data for this variant (rs753456441) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a SMAD6-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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.