ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)

dbSNP: rs1569190092
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680061 SCV000807501 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported and was found once in our laboratory mosaic and de novo in a 12-year-old male with no speech, neuropathy, acquired torsion dystonia, encephalopathy, scoliosis, microcephaly, vision loss, small optic nerves

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.