ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.225C>A (p.Tyr75Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796529 SCV005416304 likely pathogenic Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 criteria provided, single submitter clinical testing PM2_Supporting+PVS1
Labcorp Genetics (formerly Invitae), Labcorp RCV005105131 SCV005760768 pathogenic Combined oxidative phosphorylation defect type 17 2024-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr75*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 35946480). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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