ClinVar Miner

Submissions for variant NM_198076.6(COX20):c.269T>C (p.Ile90Thr)

gnomAD frequency: 0.00003  dbSNP: rs150172035
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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 RCV002040840 SCV002299559 uncertain significance not provided 2022-05-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 90 of the COX20 protein (p.Ile90Thr). This variant is present in population databases (rs150172035, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with COX20-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002492381 SCV002782121 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 11 2021-12-01 criteria provided, single submitter clinical testing

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