ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.798A>G (p.Thr266=)

gnomAD frequency: 0.00170  dbSNP: rs35752213
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718860 SCV000514088 benign not provided 2018-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314156 SCV000848983 likely benign Inborn genetic diseases 2014-11-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000889181 SCV001032846 benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001718860 SCV005209132 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001833520 SCV002076932 likely benign Pyruvate dehydrogenase complex deficiency 2020-10-30 no assertion criteria provided clinical testing

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.