ClinVar Miner

Submissions for variant NM_006294.5(UQCRB):c.306_309del (p.Arg105fs)

gnomAD frequency: 0.00001  dbSNP: rs886043294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000375478 SCV000339319 pathogenic not provided 2016-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000375478 SCV002227852 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the UQCRB gene (p.Arg105Lysfs*22). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the UQCRB protein and extend the protein by 14 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.01%). This frameshift has been observed in individual(s) with autosomal recessive mitochondrial complex III deficiency (PMID: 12709789, 28604960). ClinVar contains an entry for this variant (Variation ID: 286054). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this frameshift affects UQCRB function (PMID: 25446085).
OMIM RCV004567831 SCV000033339 pathogenic Mitochondrial complex III deficiency nuclear type 3 2003-07-01 no assertion criteria provided literature only

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