ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1753T>A (p.Trp585Arg)

dbSNP: rs2152065960
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001875110 SCV002142571 uncertain significance Progressive sclerosing poliodystrophy 2023-04-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1373283). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt POLG protein function. This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 585 of the POLG protein (p.Trp585Arg).
Ambry Genetics RCV004040588 SCV005007097 uncertain significance Inborn genetic diseases 2023-12-21 criteria provided, single submitter clinical testing The c.1753T>A (p.W585R) alteration is located in exon 10 (coding exon 9) of the POLG gene. This alteration results from a T to A substitution at nucleotide position 1753, causing the tryptophan (W) at amino acid position 585 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.