ClinVar Miner

Submissions for variant NM_018082.5(POLR3B):c.1568T>A (rs138249161)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochimie-Hormonologie,Robert Debre Hospital RCV000477831 SCV000564291 pathogenic Cerebellar hypoplasia with endosteal sclerosis 2016-12-21 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763295 SCV000893958 pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia; Hypomyelinating leukodystrophy 7; Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000442312 SCV000514247 pathogenic not provided 2016-12-29 criteria provided, single submitter clinical testing The V523E pathogenic variant in the POLR3B gene has been reported previously as a common variant associated with 4H leukodystrophy (Tetreault et al., 2011; Daoud et al., 2013; Wolf et al., 2014; Gutierrez et al., 2015; Billington et al., 2015; Battini et al., 2015; Richards et al., 2017). The V523E variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. The V523E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V523E as a pathogenic variant.
GeneReviews RCV000032280 SCV000055916 pathologic Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 2012-08-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000032280 SCV000744101 pathogenic Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 2017-07-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000032280 SCV000746009 pathogenic Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 2015-01-30 no assertion criteria provided clinical testing
OMIM RCV000032280 SCV000045453 pathogenic Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 2011-11-11 no assertion criteria provided literature only

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