ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.92-165C>T (rs1562458862)

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
laboratory of biochemistry,Caen University Hospital RCV000714979 SCV000845176 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2018-10-23 criteria provided, single submitter case-control We identified two compound heterozygous variants in the SERAC1 gene: a pathogenic nonsense substitution : c.202C>T, (p.Arg68*), and a novel mutation at a canonical splicing site upstream exon 4 (c.129-1G>C). The c.202C>T variant, which causes a premature termination in protein translation, was previously reported in homozygous state and is responsible for the MEGDEL syndrome (see for review Maas et al., 2007)

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.