ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.173G>A (p.Arg58His)

gnomAD frequency: 0.00005  dbSNP: rs772223730
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315497 SCV000400599 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351189 SCV000400600 uncertain significance Mitochondrial complex IV deficiency, nuclear type 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859908 SCV002259982 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 58 of the COX10 protein (p.Arg58His). This variant is present in population databases (rs772223730, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with COX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 321812). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002495013 SCV002799520 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2021-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243077 SCV003951447 uncertain significance Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing The c.173G>A (p.R58H) alteration is located in exon 2 (coding exon 2) of the COX10 gene. This alteration results from a G to A substitution at nucleotide position 173, causing the arginine (R) at amino acid position 58 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Johnston Lab, North Central College RCV001859908 SCV005200378 not provided not provided no assertion provided in vitro

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