ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu)

gnomAD frequency: 0.00001  dbSNP: rs749567667
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 RCV001220404 SCV001392392 uncertain significance Atrioventricular septal defect 5 2023-03-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 949027). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 586 of the GATA6 protein (p.Pro586Leu). This variant is present in population databases (rs749567667, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GATA6-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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.

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.