ClinVar Miner

Submissions for variant m.15326A>G

dbSNP: rs2853508
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 RCV002221492 SCV002498776 benign Mitochondrial disease 2022-03-24 reviewed by expert panel curation The m.15326A>G (p.T194A) variant in MT-CYB was reviewed by the Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel as part of the variant pilot for mitochondrial DNA variant specifications (McCormick et al., 2020; PMID: 32906214). This variant is seen at high frequencies in numerous haplogroups and the overall allele frequency in GenBank database (per Mitomap; queried 6/29/2020) is 98.7% (BA1). Additionally, the computational predictor APOGEE gives a consensus rating of neutral with a low pathogenicity predictor score, 0.4 (Min=0, Max=1), evidence that does not predict a damaging effect on gene function (BP4). In summary, this variant meets criteria to be classified as benign. This classification was approved by the NICHD U24 Mitochondrial Disease Variant Curation Expert Panel as of August 20, 2020. Mitochondrial DNA-specific ACMG/AMP criteria applied: BA1, BP4.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000855273 SCV000998323 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.15326A>G (YP_003024038.1:p.Thr194Ala) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
Department of Zoology Govt. MVM College RCV000128807 SCV000172465 probable-pathogenic Familial cancer of breast no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.