ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.3075G>A (p.Leu1025=) (rs146404260)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230283 SCV000287670 likely benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000432604 SCV000514243 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000230283 SCV000887085 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.3075G>A (NP_002684.1:p.Leu1025=) [GRCH38: NC_000015.10:g.89319257C>T] variant in POLG gene is interpretated to be a Likely Benign based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. BP4:Computational evidence/predictors indicate no impact on the POLG structure, function, or protein-protein interaction. BP7:The variant is silent with non predicted splice impact. Based on the evidence criteria codes applied, the variant is suggested to be Likely Benign.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768051 SCV000898896 uncertain significance Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type 2018-03-13 criteria provided, single submitter clinical testing POLG NM_002693.2 exon 19 p.Leu1025= (c.3075G>A): This variant has not been reported in the literature but is present in 11/126672 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs146404260). This variant is present in ClinVar (Variation ID:239380). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain._x000D_

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.