ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val)

gnomAD frequency: 0.00024  dbSNP: rs149544601
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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 RCV000651791 SCV000773645 uncertain significance Combined oxidative phosphorylation defect type 17 2022-07-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 396 of the ELAC2 protein (p.Ile396Val). This variant is present in population databases (rs149544601, gnomAD 0.1%). 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: 541491). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002485472 SCV002785141 uncertain significance Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 2021-08-02 criteria provided, single submitter clinical testing
GeneDx RCV003442001 SCV004168591 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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