ClinVar Miner

Submissions for variant NM_001861.6(COX4I1):c.122G>A (p.Arg41Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003413017 SCV004138015 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing COX4I1: BP4
Ambry Genetics RCV004907845 SCV005566944 uncertain significance not specified 2024-11-08 criteria provided, single submitter clinical testing The c.122G>A (p.R41Q) alteration is located in exon 3 (coding exon 2) of the COX4I1 gene. This alteration results from a G to A substitution at nucleotide position 122, causing the arginine (R) at amino acid position 41 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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