ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly)

dbSNP: rs119484087
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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 RCV001904552 SCV002119886 uncertain significance Combined oxidative phosphorylation defect type 17 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 622 of the ELAC2 protein (p.Glu622Gly). This variant is present in population databases (rs119484087, gnomAD 0.02%). 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: 1359788). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ELAC2 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002489990 SCV002780716 uncertain significance Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 2022-04-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693811 SCV005192736 uncertain significance not provided criteria provided, single submitter not provided

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