ClinVar Miner

Submissions for variant NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) (rs786205225)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000346231 SCV000330011 pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing The R88X variant in the NDUFB11 gene has been reported previously as a de novo change in twofemale patients, one with MLS syndrome and histiocytoid cardiomyopathy in whom R88X wasidentified in the mosaic state in lymphocytes (van Rahden et al., 2015), and another with histiocytoidcardiomyopathy who lacked diagnostic features of MLS (Rea et al., 2016a; Rea et al., 2016b). Thisvariant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. The R88X variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. We interpret R88X as a pathogenicvariant.
Fulgent Genetics,Fulgent Genetics RCV000763626 SCV000894492 pathogenic Linear skin defects with multiple congenital anomalies 1; Linear skin defects with multiple congenital anomalies 3; Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000170490 SCV000222922 pathogenic Linear skin defects with multiple congenital anomalies 3 2015-04-02 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000240620 SCV000297804 likely pathogenic Histiocytoid cardiomyopathy 2016-08-15 no assertion criteria provided research

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