ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)

dbSNP: rs397515465
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000056276 SCV002022178 pathogenic Combined oxidative phosphorylation defect type 17 2022-04-02 criteria provided, single submitter clinical testing
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 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, Karolinska University Hospital RCV000056276 SCV004708218 pathogenic Combined oxidative phosphorylation defect type 17 2024-03-11 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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, King Abdulaziz Medical City RCV000056276 SCV001132935 pathogenic Combined oxidative phosphorylation defect type 17 2019-08-25 no assertion criteria provided clinical testing

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