Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Paediatrics and Adolescent Medicine, |
RCV001257088 | SCV001364390 | likely pathogenic | Primary coenzyme Q10 deficiency 8 | 2020-06-02 | criteria provided, single submitter | research | By the ACMG guideline 2015, this variant is classified as likely pathogenic (PVS1, PM2). This variant is found to be in trans with a missense variant of uncertain significance. Skin fibroblast study of the patient showed decreased combined complex II + III activity and reduction in COQ10 level, supporting the biallelic changes may be responsible to the individual's phenotype. |
OMIM | RCV001257088 | SCV003936811 | pathogenic | Primary coenzyme Q10 deficiency 8 | 2023-07-05 | no assertion criteria provided | literature only |