ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.520G>A (p.Val174Ile)

gnomAD frequency: 0.00001  dbSNP: rs1331115392
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847493 SCV002104904 uncertain significance Hereditary spastic paraplegia 2017-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034739 SCV002312871 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POLG2-related conditions. This sequence change replaces valine with isoleucine at codon 174 of the POLG2 protein (p.Val174Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). 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. 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.