ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) (rs587776498)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481050 SCV000565894 pathogenic not provided 2019-11-04 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect as A2V was associated with a reduction in protein expression and enzyme activity (Sakai et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25393721, 31967322, 33139125, 32677908, 33163364)
Mendelics RCV000167582 SCV001138193 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2019-05-28 criteria provided, single submitter clinical testing
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry RCV000144497 SCV000189815 probable-pathogenic Leigh syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000167582 SCV000218463 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2015-02-01 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.