ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2181G>A (p.Met727Ile)

dbSNP: rs1553551756
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 RCV000534594 SCV000636763 uncertain significance Perlman syndrome 2017-05-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 727 of the DIS3L2 protein (p.Met727Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on DIS3L2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with a DIS3L2-related disease.

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.