Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kids Research, |
RCV000851532 | SCV001244722 | likely pathogenic | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | criteria provided, single submitter | research | ||
Elsea Laboratory, |
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]. |
Gene |
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, |
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). |
Gene |
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 |