ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3100C>T (p.Arg1034Cys)

dbSNP: rs777672180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503634 SCV000597463 uncertain significance not specified 2017-01-13 criteria provided, single submitter clinical testing
Invitae RCV002524309 SCV001234922 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1034 of the TERT protein (p.Arg1034Cys). This variant is present in population databases (rs777672180, gnomAD 0.0009%). This missense change has been observed in individual(s) with familial pulmonary fibrosis (PMID: 29382801). ClinVar contains an entry for this variant (Variation ID: 436984). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TERT protein function. Experimental studies have shown that this missense change affects TERT function (PMID: 29382801). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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