Submissions for variant NM_001358921.2(COQ2):c.440G>A (p.Arg147His)

gnomAD frequency: 0.00003  dbSNP: rs121918231

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000001503	SCV000992726	pathogenic	Coenzyme Q10 deficiency, primary, 1	2018-10-12	criteria provided, single submitter	clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000001503	SCV001149745	pathogenic	Coenzyme Q10 deficiency, primary, 1	2018-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001550184	SCV001770474	likely pathogenic	not provided	2020-12-30	criteria provided, single submitter	clinical testing	Yeast complementation analyses showed failure of this variant to restore respiratory growth to wild type levels (Desbats et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33587123, 31216405, 28125198, 16400613, 29961769, 29296619, 17855635, 18235438, 27493029, 25525159)
Fulgent Genetics, Fulgent Genetics	RCV002504734	SCV002811527	likely pathogenic	Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to	2021-09-14	criteria provided, single submitter	clinical testing
OMIM	RCV000001503	SCV000021658	pathogenic	Coenzyme Q10 deficiency, primary, 1	2007-10-01	no assertion criteria provided	literature only
GeneReviews	RCV000416395	SCV000494122	not provided	Coenzyme Q10 deficiency		no assertion provided	literature only
SingHealth Duke-NUS Institute of Precision Medicine	RCV000001503	SCV000853125	likely pathogenic	Coenzyme Q10 deficiency, primary, 1	2017-06-07	no assertion criteria provided	curation