ClinVar Miner

Submissions for variant NM_005029.4(PITX3):c.726_728CGC[6] (p.Ala250dup)

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 RCV000824298 SCV000965191 uncertain significance Anterior segment mesenchymal dysgenesis; Cataract 11 2018-12-21 criteria provided, single submitter clinical testing This variant, c.738_740dupCGC, results in the insertion of 1 amino acid(s) to the PITX3 protein (p.Ala250dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775510715, ExAC 0.03%). This variant has not been reported in the literature in individuals with PITX3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.