ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2594G>A (p.Arg865His) (rs121918666)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology RCV000032385 SCV000803358 pathogenic Idiopathic fibrosing alveolitis, chronic form 2018-05-06 no assertion criteria provided case-control
GeneDx RCV000412959 SCV000490843 pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing The R865H variant has been published previously in association with TERT-related disorders (Tsakiri et al., 2007; Fernandez et al., 2012; DiNardo et al., 2016). The variant is observed in 1/23030 (0.004%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, functional studies have demonstrated that R865H results in significantly reduced enzyme activities (Tsakiri et al., 2007; Zaug et al., 2013). In summary, we consider this variant to be pathogenic.
GeneReviews RCV000032385 SCV000056041 pathologic Idiopathic fibrosing alveolitis, chronic form 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000013573 SCV000033820 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2007-05-01 no assertion criteria provided literature only

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