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
Broad Institute Rare Disease Group,Broad Institute RCV000001504 SCV001164363 uncertain significance Coenzyme Q10 deficiency, primary 1 2018-12-03 criteria provided, single submitter research The heterozygous p.Asn228Ser variant in COQ2 was identified by our study in the compound heterozygous state, along with another VUS, in one individual with primary coenzyme q10 deficiency. The p.Asn228Ser variant in COQ2 has been reported in 1 Eastern European individual withprimary coenzyme q10 deficiency (PMID: 17855635), and has been identified in 0.02376% (30/126254) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs121918232). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. The presence of this variant in combination with a variant reported pathogenic by OMIM in ClinVar and in an individual with primary coenzyme q10 deficiency slightly increases the likelihood that the p.Asn228Ser variant is pathogenic (PMID: 17855635; Variation ID: 1438). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PM3_Supporting (Richards 2015).
OMIM RCV000001504 SCV000021659 pathogenic Coenzyme Q10 deficiency, primary 1 2007-10-01 no assertion criteria provided literature only
GeneReviews RCV000416407 SCV000494123 pathogenic Coenzyme Q10 deficiency, primary 2016-06-07 no assertion criteria provided literature only

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