ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.520G>A (p.Ala174Thr)

dbSNP: rs2142200228
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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 RCV001864339 SCV002135083 uncertain significance not provided 2022-08-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1370660). This variant has not been reported in the literature in individuals affected with COX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 174 of the COX10 protein (p.Ala174Thr).
Fulgent Genetics, Fulgent Genetics RCV002482574 SCV002785789 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2022-01-19 criteria provided, single submitter clinical testing
Johnston Lab, North Central College RCV001864339 SCV005200364 not provided not provided no assertion provided in vitro

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