ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.245+2T>A

gnomAD frequency: 0.00001  dbSNP: rs748684065
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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 RCV001206642 SCV001377961 pathogenic Combined oxidative phosphorylation defect type 17 2022-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 937598). Disruption of this splice site has been observed in individual(s) with clinical features of mitochondrial complex I deficiency (PMID: 31045291). This variant is present in population databases (rs748684065, gnomAD 0.009%). This sequence change affects a donor splice site in intron 1 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).
GeneDx RCV003223704 SCV003919248 pathogenic not provided 2022-10-20 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31045291)
Revvity Omics, Revvity RCV001206642 SCV004238170 likely pathogenic Combined oxidative phosphorylation defect type 17 2023-02-16 criteria provided, single submitter clinical testing

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