ClinVar Miner

Submissions for variant NM_001303.4(COX10):c.1061G>A (p.Arg354Gln)

gnomAD frequency: 0.00005  dbSNP: rs745492359
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513659 SCV000608809 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764104 SCV000895072 uncertain significance Leigh syndrome; Mitochondrial complex IV deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513659 SCV002275501 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 354 of the COX10 protein (p.Arg354Gln). This variant is present in population databases (rs745492359, gnomAD 0.006%). 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: 444401). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COX10 protein function with a negative predictive value of 80%. 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 RCV002524962 SCV003685390 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.1061G>A (p.R354Q) alteration is located in exon 7 (coding exon 7) of the COX10 gene. This alteration results from a G to A substitution at nucleotide position 1061, causing the arginine (R) at amino acid position 354 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV003105935 SCV003762141 uncertain significance Mitochondrial complex 4 deficiency, nuclear type 3 2023-01-31 criteria provided, single submitter clinical testing

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