ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)

dbSNP: rs1602231539
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 RCV000793164 SCV000932505 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2018-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Glu358Glyfs*12) that lies downstream of this variant has been determined to be pathogenic (PMID: 1907799). This suggests that deletion of this region of the PDHA1 protein is causative of disease. 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). This sequence change results in a premature translational stop signal in the PDHA1 gene (p.Ser331Argfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acids of the PDHA1 protein.

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.