Submissions for variant NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)

gnomAD frequency: 0.00002  dbSNP: rs119468004

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000003821	SCV000593044	pathogenic	Autosomal recessive ataxia due to ubiquinone deficiency	2016-10-11	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197690	SCV001368469	likely pathogenic	See cases	2019-01-09	criteria provided, single submitter	clinical testing	This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001813945	SCV001755629	likely pathogenic	Abnormality of the nervous system	2021-07-10	criteria provided, single submitter	clinical testing
Invitae	RCV002512725	SCV003524094	likely pathogenic	not provided	2022-06-30	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects COQ8A function (PMID: 18319072). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COQ8A protein function. ClinVar contains an entry for this variant (Variation ID: 3636). This gene is also known as CABC1 and ADCK3. This missense change has been observed in individuals with clinical features of COQ8A-related conditions (PMID: 18319072, 27142713, 29915382). This variant is present in population databases (rs119468004, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 551 of the COQ8A protein (p.Glu551Lys).
Revvity Omics, Revvity	RCV000003821	SCV003829876	likely pathogenic	Autosomal recessive ataxia due to ubiquinone deficiency	2023-02-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002512725	SCV003916560	uncertain significance	not provided	2023-01-01	criteria provided, single submitter	clinical testing	COQ8A: PM2, PP3
OMIM	RCV000003821	SCV000023986	pathogenic	Autosomal recessive ataxia due to ubiquinone deficiency	2008-03-01	no assertion criteria provided	literature only
GeneReviews	RCV000003821	SCV000494089	not provided	Autosomal recessive ataxia due to ubiquinone deficiency		no assertion provided	literature only