ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.253+4A>T (rs907149421)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004880 SCV001164364 uncertain significance Coenzyme Q10 deficiency, primary 1 2018-12-03 criteria provided, single submitter research The heterozygous c.403+4A>T 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 c.403+4A>T variant in COQ2 has not been previously reported in individuals with primary coenzyme q10 deficiency but has been identified in 0.001482% (1/67466) 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. This variant is located in the 5' splice region. Computational tools do suggest a weak impact to splicing. However, this information is not predictive enough to determine pathogenicity. A different variant of unknown significance in the same ext'ended splice site, c.403+10G>T, has been reported in the heterozygous state in a Japanese family with multiple system atrophy (PMID: 25373618). In summary, the clinical significance of the c.403+4A>T variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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