Submissions for variant NM_020312.4(COQ9):c.79C>G (p.Arg27Gly)

dbSNP: rs140264612

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000999888	SCV000398235	likely benign	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999888	SCV000885253	benign	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	2018-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV000757130	SCV001099271	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757130	SCV004139857	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	COQ9: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003937731	SCV004752059	benign	COQ9-related condition	2019-09-25	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).