ClinVar Miner

Submissions for variant NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs)

dbSNP: rs1962955145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 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

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