ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)

dbSNP: rs1554261079
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000515616 SCV000787493 uncertain significance 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance, for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd RCV000515616 SCV000537858 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome no assertion criteria provided research The homozygous for this variant was a 11 year-old female child with severe and increasing dystonia. Patient had difficulty in walking and ataxia, which progressed to severe dystonia, wry neck, dysarthria, and drooling.
OMIM RCV000515616 SCV002016241 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-11-17 no assertion criteria provided literature only

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.