ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.2009del (p.Cys670fs)

gnomAD frequency: 0.00006  dbSNP: rs761385155
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578466 SCV000680208 pathogenic Combined oxidative phosphorylation defect type 17 2017-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000578466 SCV003454560 pathogenic Combined oxidative phosphorylation defect type 17 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys670Serfs*14) in the ELAC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELAC2 are known to be pathogenic (PMID: 27769300, 31045291). This variant is present in population databases (rs761385155, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 31045291). ClinVar contains an entry for this variant (Variation ID: 488502). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002529038 SCV003528478 pathogenic Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.2009delG (p.C670Sfs*14) alteration, located in exon 21 (coding exon 21) of the ELAC2 gene, consists of a deletion of one nucleotide at position 2009, causing a translational frameshift with a predicted alternate stop codon after 14 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This alteration has been reported in conjunction with another alteration in ELAC2 in individuals with features consistent with ELAC2-related combined oxidative phosphorylation deficiency (Forny, 2021; Peeters, 2020; Saoura, 2019; Schon, 2021). Based on the available evidence, this alteration is classified as pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003884652 SCV004701765 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing ELAC2: PVS1, PM2, PS3:Supporting

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