Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000056276 | SCV002022178 | pathogenic | Combined oxidative phosphorylation defect type 17 | 2022-04-02 | criteria provided, single submitter | clinical testing | |
Pediatric/Medical Genetics, |
RCV000056276 | SCV002766595 | pathogenic | Combined oxidative phosphorylation defect type 17 | 2022-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000056276 | SCV003443770 | pathogenic | Combined oxidative phosphorylation defect type 17 | 2022-09-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ELAC2 function (PMID: 23849775, 31045291). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 66037). This missense change has been observed in individuals with ELAC2-related conditions (PMID: 23849775, 28441660, 28454995, 31045291, 32870709). This variant is present in population databases (rs397515465, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 154 of the ELAC2 protein (p.Phe154Leu). |
Centre for Inherited Metabolic Diseases, |
RCV000056276 | SCV004708218 | pathogenic | Combined oxidative phosphorylation defect type 17 | 2024-03-11 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV004527310 | SCV005038810 | pathogenic | Prostate cancer, hereditary, 2, susceptibility to | 2024-03-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000056276 | SCV000087448 | pathogenic | Combined oxidative phosphorylation defect type 17 | 2013-08-08 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000056276 | SCV001132935 | pathogenic | Combined oxidative phosphorylation defect type 17 | 2019-08-25 | no assertion criteria provided | clinical testing |