ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter)

gnomAD frequency: 0.00001  dbSNP: rs767879725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223167 SCV001395303 pathogenic Combined oxidative phosphorylation defect type 17 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu30*) 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 (rs767879725, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ELAC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 951292). For these reasons, this variant has been classified as Pathogenic.
GeneID Lab - Advanced Molecular Diagnostics RCV001223167 SCV002011824 pathogenic Combined oxidative phosphorylation defect type 17 2019-05-08 criteria provided, single submitter clinical testing This variant results in an amino acid alteration, replacing a glutamic acid (E) with a premature stop codon at position 30 noted as p.Glu30Ter or p.E30*. The substitution is predicted to result in a non-functional protein, either through protein truncation or nonsense-mediated mRNA decay. This variant is considered a non-tolerated amino acid change based on “in silico” prediction algorithms (disease causing), and it has been reported in the gnomAD database at a frequency of 0.000058.Based on these findings and the limited literature regarding this substitution we consider it as a “likely pathogenic variant”.
Mayo Clinic Laboratories, Mayo Clinic RCV003481003 SCV004226907 likely pathogenic not provided 2023-01-17 criteria provided, single submitter clinical testing PVS1

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