ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.803G>A (p.Arg268His)

dbSNP: rs374426285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002550113 SCV001567279 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-12-29 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt TERT protein function. ClinVar contains an entry for this variant (Variation ID: 1061207). This variant has not been reported in the literature in individuals affected with TERT-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 268 of the TERT protein (p.Arg268His).
Genetic Services Laboratory, University of Chicago RCV001820074 SCV002065801 uncertain significance not specified 2021-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004557571 SCV002677495 uncertain significance Dyskeratosis congenita 2022-10-15 criteria provided, single submitter clinical testing The p.R268H variant (also known as c.803G>A), located in coding exon 2 of the TERT gene, results from a G to A substitution at nucleotide position 803. The arginine at codon 268 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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