ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.560-10T>C

gnomAD frequency: 0.00001  dbSNP: rs1318229217
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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 RCV001881359 SCV002152511 uncertain significance Combined oxidative phosphorylation defect type 17 2021-07-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ELAC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 6 of the ELAC2 gene. It does not directly change the encoded amino acid sequence of the ELAC2 protein.

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