Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
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 |