Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genomic Research Center, |
RCV000714574 | SCV000845278 | uncertain significance | Primary coenzyme Q10 deficiency 8 | 2018-08-07 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV000714574 | SCV002768318 | uncertain significance | Primary coenzyme Q10 deficiency 8 | 2022-02-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3A. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with primary coenzyme Q10 deficiency 8 (MIM#616733). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to glutamine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (3 heterozygotes, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (4 heterozygotes, 0 homozygotes). (I) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0600 - Variant is located in the annotated ubiquinone biosynthesis protein COQ7 domain (DECIPHER). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been reported once as uncertain significance in ClinVar. It has also been reported in a compound heterozygous state and causative for primary CoQ10 deficiency in an individual (Shinawi, M. and Lasio, L. (2017) conference abstract). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
| Ce |
RCV003420273 | SCV004141243 | uncertain significance | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | COQ7: PM2, PM3:Supporting, PS3:Supporting |
| OMIM | RCV000714574 | SCV003936813 | pathogenic | Primary coenzyme Q10 deficiency 8 | 2024-01-31 | no assertion criteria provided | literature only | |
| OMIM | RCV003492154 | SCV004242173 | pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 9 | 2024-01-31 | no assertion criteria provided | literature only |