ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3483-164A>C

gnomAD frequency: 0.01667  dbSNP: rs3176231
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen RCV001759634 SCV001994839 benign Mitochondrial disease 2021-05-06 reviewed by expert panel curation The c.3483-164 A>C variant in POLG is present in population databases gnomAD at 5.9% and seen in 12 homozygotes (BA1; observed > 1% frequency and BS2). In summary, this variant is characterized as a benign variant for primary mitochondrial disease inherited in a autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1, BS2
GeneDx RCV000837186 SCV000979036 benign not provided 2018-06-14 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.
Breakthrough Genomics, Breakthrough Genomics RCV000837186 SCV005294869 benign not provided criteria provided, single submitter not provided

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.