ClinVar Miner

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

gnomAD frequency: 0.00116  dbSNP: rs142609245
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000239318 SCV000297080 likely pathogenic not provided 2015-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000239318 SCV000513887 pathogenic not provided 2020-06-16 criteria provided, single submitter clinical testing Expression of W22R into patient fibroblasts failed to rescue mitochondrial complex I deficiency, while expression of wild-type NDUFB3 rescued complex I activity (Haack et al., 2012); This variant is associated with the following publications: (PMID: 22277967, 22499348, 27091925, 26795593, 31000363, 31589614)
Genetic Services Laboratory,University of Chicago RCV000504444 SCV000595949 likely pathogenic Mitochondrial complex I deficiency 2015-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624796 SCV000740859 pathogenic Inborn genetic diseases 2015-03-10 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
CeGaT Center for Human Genetics Tuebingen RCV000239318 SCV001246326 likely pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000239318 SCV001468023 likely pathogenic not provided 2020-08-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000735413 SCV001520214 pathogenic Mitochondrial complex 1 deficiency, nuclear type 25 2020-08-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000735413 SCV002548243 pathogenic Mitochondrial complex 1 deficiency, nuclear type 25 2022-05-18 criteria provided, single submitter clinical testing Variant summary: NDUFB3 c.64T>C (p.Trp22Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00085 in 250986 control chromosomes. c.64T>C has been reported in the literature in individuals affected with Mitochondrial Complex 1 Deficiency, Nuclear Type 25 or related disorders. These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function and showed that protein with this variant could not rescue NDUFB3 deficiency. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000735413 SCV000044638 pathogenic Mitochondrial complex 1 deficiency, nuclear type 25 2012-01-25 no assertion criteria provided literature only
PerkinElmer Genomics RCV000735413 SCV002018239 pathogenic Mitochondrial complex 1 deficiency, nuclear type 25 2019-09-11 no assertion criteria provided clinical testing

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