ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2227C>T (p.Arg743Trp)

gnomAD frequency: 0.00001  dbSNP: rs1388515349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503102 SCV000597474 uncertain significance not specified 2019-02-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508163 SCV001714130 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing
Invitae RCV002527300 SCV002281512 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 743 of the TERT protein (p.Arg743Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with premature greying of the hair, coronary artery disease and myelodysplastic syndrome (PMID: 24833766). ClinVar contains an entry for this variant (Variation ID: 436991). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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