ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1441C>G (p.Pro481Ala)

gnomAD frequency: 0.00001  dbSNP: rs1474253067
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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 RCV001941227 SCV002211698 uncertain significance Combined oxidative phosphorylation defect type 17 2021-10-24 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 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 replaces proline with alanine at codon 481 of the ELAC2 protein (p.Pro481Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.

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