Submissions for variant NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)

gnomAD frequency: 0.00127  dbSNP: rs150243147

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000223978	SCV000281610	uncertain significance	not provided	2015-11-23	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Athena Diagnostics	RCV001640370	SCV001142962	likely benign	not specified	2020-09-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000223978	SCV001811985	likely benign	not provided	2021-01-08	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000223978	SCV002401782	benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000223978	SCV004125750	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	COQ8A: BS1
Mayo Clinic Laboratories, Mayo Clinic	RCV000223978	SCV005410079	uncertain significance	not provided	2023-10-04	criteria provided, single submitter	clinical testing	BP4
PreventionGenetics, part of Exact Sciences	RCV003955293	SCV004770482	likely benign	COQ8A-related disorder	2021-09-13	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).