ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.591G>A (p.Trp197Ter)

dbSNP: rs1359575116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315038 SCV001505594 uncertain significance Combined oxidative phosphorylation defect type 17 2020-02-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with ELAC2-related conditions. This sequence change results in a premature translational stop signal in the ELAC2 gene (p.Trp197*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 630 amino acids of the ELAC2 protein.
Revvity Omics, Revvity RCV001315038 SCV003831879 uncertain significance Combined oxidative phosphorylation defect type 17 2020-03-26 criteria provided, single submitter clinical testing

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