ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1492G>A (p.Gly498Arg)

dbSNP: rs2126683901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003104156 SCV002209822 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-08-01 criteria provided, single submitter clinical testing 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. 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. This missense change has been observed in individual(s) with chronic hypersensitivity pneumonitis (PMID: 31268371). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 498 of the TERT protein (p.Gly498Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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