ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)

dbSNP: rs199422294
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Degerman lab,Umeå University RCV000677344 SCV000611696 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2017-11-23 criteria provided, single submitter clinical testing
Invitae RCV001857356 SCV002228882 pathogenic Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2 2021-09-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 631 of the TERT protein (p.Arg631Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of TERT-related conditions (PMID: 18460650, 19760749, 22853774, 26024875, 29483670). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 29899). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TERT protein function. Experimental studies have shown that this missense change affects TERT function (PMID: 19760749, 26024875). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000022783 SCV000044072 pathogenic Dyskeratosis congenita, autosomal dominant 2 2008-06-01 no assertion criteria provided literature only
GeneReviews RCV000032370 SCV000056026 pathologic Idiopathic Pulmonary Fibrosis 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology RCV000032370 SCV000803359 pathogenic Idiopathic Pulmonary Fibrosis 2018-05-06 no assertion criteria provided case-control

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