ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)

gnomAD frequency: 0.00004  dbSNP: rs557128093
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Research, The Children's Hospital at Westmead RCV000851532 SCV001244722 likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency criteria provided, single submitter research
Elsea Laboratory, Baylor College of Medicine RCV000851532 SCV001424289 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2020-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000851532 SCV001520540 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2020-03-28 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001564785 SCV001788000 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29923089, 31219693, 26920905, 29575569, 32800686, 26099313, 30848071, 29882869, 32313153, 28202214, 28409271, 26839416, 33586140, 32013919, 31944285)
Revvity Omics, Revvity RCV000851532 SCV002024452 likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2019-12-24 criteria provided, single submitter clinical testing
Invitae RCV001564785 SCV002229788 pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ECHS1 protein function. ClinVar contains an entry for this variant (Variation ID: 691284). This missense change has been observed in individual(s) with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (PMID: 26099313). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs557128093, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 180 of the ECHS1 protein (p.Thr180Ala).
GeneReviews RCV000851532 SCV000994605 not provided Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency no assertion provided literature only
OMIM RCV000851532 SCV001422322 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2021-08-12 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.