ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.797+11G>C

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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 RCV002994229 SCV003296312 uncertain significance Combined oxidative phosphorylation defect type 17 2022-04-20 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the ELAC2 gene. It does not directly change the encoded amino acid sequence of the ELAC2 protein. This variant is present in population databases (rs761748475, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ELAC2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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