Submissions for variant NM_020312.4(COQ9):c.625C>G (p.Leu209Val)

gnomAD frequency: 0.00217  dbSNP: rs78846023

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124553	SCV000167986	benign	not specified	2014-05-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000281721	SCV000398243	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.
Invitae	RCV000882889	SCV001026153	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000281721	SCV002795520	likely benign	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	2021-11-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000882889	SCV004139858	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	COQ9: BS2
PreventionGenetics, part of Exact Sciences	RCV003905196	SCV004719896	benign	COQ9-related condition	2019-06-17	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).