ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.589ACA[1] (p.Thr198del)

dbSNP: rs863224100
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
GeneDx RCV000200139 SCV000251861 likely pathogenic not provided 2014-09-09 criteria provided, single submitter clinical testing c.592_594delACA: p.Thr198del (T198del) in exon 8 of the NDUFS1 gene (NM_005006.5). The normal sequence with the bases that are deleted in braces is: AACA{ACA}GGCA. The c.592_594delACA variant has not been published as a pathogenic, or reported as a benign polymorphism to our knowledge. The c.592_594delACA variant causes the loss of a single Threonine codon at position 198, denoted p.Thr198del. The Threonine at this position is conserved across species. Therefore, c.592_594delACA is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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.