ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.2030-2A>G

gnomAD frequency: 0.00002  dbSNP: rs1033730754
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002005787 SCV002270522 likely pathogenic Combined oxidative phosphorylation defect type 17 2023-02-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 21 of the ELAC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ELAC2 are known to be pathogenic (PMID: 27769300, 31045291). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1484428). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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