ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.403_423dup (p.Ala141_Ser142insAlaGlyAlaProArgAspAla)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003531411 SCV004282535 uncertain significance Aortic valve disease 2 2022-12-20 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.403_423dup, results in the insertion of 7 amino acid(s) of the SMAD6 protein (p.Ala135_Ala141dup), but otherwise preserves the integrity of the reading frame.

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.