ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.92-239G>C

dbSNP: rs1562458915
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 RCV000714974 SCV000844950 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2018-10-23 criteria provided, single submitter case-control The patient fullfilled criteria for the MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like) syndrome : failure to thrive, hypotonia deafness, dystonia, and spasticity and loss of acquired skills. Brain MRI showed a major and diffuse cortical and subcortical atrophy and bilateral abnormalities of the putamen and thalami. We evidenced increased excretion of both 3-methylglutaconic acid and 3-methylglutaric acid. 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). mRNAs sequencing of SERAC1 showed that the splice site mutation resulted in exon 3 skipping and western-blot experiments showed the absence of SERAC1 expression in the fibroblasts.

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.