ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003329216 SCV004036009 uncertain significance Primary coenzyme Q10 deficiency 8 2023-05-06 criteria provided, single submitter clinical testing The COQ7 c.160C>T (p.Arg54Trp) missense variant has been reported in a compound heterozygous state with a second missense variant, in one individual with distal muscle weakness and atrophy (PMID: 36758993). This variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.160C>T (p.Arg54Trp) variant is classified as a variant of uncertain significance for primary coenzyme Q10 deficiency.
OMIM RCV003336854 SCV004046650 pathogenic Neuronopathy, distal hereditary motor, autosomal recessive 9 2023-10-17 no assertion criteria provided literature only

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