ClinVar Miner

Submissions for variant NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) (rs121918232)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000416407 SCV000494123 pathogenic Coenzyme Q10 deficiency, primary 2016-06-07 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000416407 SCV000915102 uncertain significance Coenzyme Q10 deficiency, primary 2017-05-22 criteria provided, single submitter clinical testing The COQ2 c.683A>G (p.Asn228Ser) missense variant has been reported in a compound heterozygous state in two individuals with primary coenzyme Q10 deficiency (Diomedi-Camassei et al. 2007; McCarthy et al. 2013). Control data are unavailable for this variant, which it is reported at a frequency of 0.00029 in the European (non-Finnish) population of the Exome Aggregation Consortium. Desbats et al. (2016) expressed the p.Asn228Ser variant in yeast cells to evaluate the effect on COQ2 activity. They indicate this variant is a mild variant. The evidence for the p.Asn228Ser variant is limited. It is therefore classified as a variant of unknown significance but suspicious for pathogenicity for primary coenzyme Q10 deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000001504 SCV000021659 pathogenic Coenzyme Q10 deficiency, primary 1 2007-10-01 no assertion criteria provided literature only

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