ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)

dbSNP: rs1602233040
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
Invitae RCV000816048 SCV000956537 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2018-08-12 criteria provided, single submitter clinical testing This variant, c.1117_1128delCCACCTTTTGAA, results in the deletion of 4 amino acid(s) of the PDHA1 protein (p.Pro373_Glu376del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has not been reported in the literature in individuals with PDHA1-related disease. This variant is not present in population databases (ExAC no frequency).

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.