ClinVar Miner

Submissions for variant NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) (rs142609245)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624796 SCV000740859 pathogenic Inborn genetic diseases 2015-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239318 SCV000297080 likely pathogenic not provided 2015-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763470 SCV000894252 likely pathogenic Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000239318 SCV000513887 pathogenic not provided 2018-09-22 criteria provided, single submitter clinical testing The W22R pathogenic variant in the NDUFB3 gene has previously been reported in several unrelated individuals with mitochondrial complex I deficiency who were homozygous for W22R or compound heterozygous for W22R and a nonsense variant in the NDUFB3 gene (Calvo et al., 2012; Haack et al., 2012; Helbig et al., 2016; Alston et al., 2016). The W22R variant has been reported to be a founder mutation in the Irish population and has been associated with a more mild clinical presentation with individuals homozygous for W22R presenting with life-threatening metabolic crisis, with subsequent improvement, although patients were reported to have short stature, characteristic facial features, and bouts of lactic acidosis during periods of illness (Alston et al. 2016). In summary, we interpret W22R to be a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000504444 SCV000595949 likely pathogenic Mitochondrial complex I deficiency 2015-12-17 criteria provided, single submitter clinical testing
OMIM RCV000735413 SCV000044638 pathogenic MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 2012-01-25 no assertion criteria provided literature only

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