ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1554C>T (p.Phe518=)

gnomAD frequency: 0.00004  dbSNP: rs747135135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000934574 SCV001080299 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488014 SCV002795175 likely benign Autosomal recessive ataxia due to ubiquinone deficiency 2022-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895680 SCV004714729 likely benign COQ8A-related disorder 2022-02-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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