ClinVar Miner

Submissions for variant NM_198076.6(COX20):c.222-3A>C

gnomAD frequency: 0.00003  dbSNP: rs200065889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436973 SCV000522290 likely benign not specified 2016-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV002488916 SCV002798687 likely benign Mitochondrial complex 4 deficiency, nuclear type 11 2022-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521611 SCV003258842 uncertain significance not provided 2022-08-06 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the COX20 gene. It does not directly change the encoded amino acid sequence of the COX20 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200065889, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with COX20-related conditions. ClinVar contains an entry for this variant (Variation ID: 382376). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV002525342 SCV003549006 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.222-3A>C intronic alteration consists of an A to C substitution 3 nucleotides before exon 4 (coding exon 4) of the COX20 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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