ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.85T>C (p.Phe29Leu)

gnomAD frequency: 0.00005  dbSNP: rs863223933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002515385 SCV000251259 uncertain significance not provided 2024-09-19 criteria provided, single submitter clinical testing Reported without a second variant in a patient with multiple-system atrophy in published literature (PMID: 23758206); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23758206)
Labcorp Genetics (formerly Invitae), Labcorp RCV002515385 SCV003517543 uncertain significance not provided 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 79 of the COQ2 protein (p.Phe79Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with multiple-system atrophy (PMID: 23758206). ClinVar contains an entry for this variant (Variation ID: 214222). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change does not substantially affect COQ2 function (PMID: 23758206). 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.

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