ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2776G>A (p.Gly926Ser)

gnomAD frequency: 0.00001  dbSNP: rs547377569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002538049 SCV000949337 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 926 of the TERT protein (p.Gly926Ser). This variant is present in population databases (rs547377569, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TERT-related conditions. ClinVar contains an entry for this variant (Variation ID: 653421). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004822215 SCV005512335 uncertain significance Dyskeratosis congenita 2024-08-29 criteria provided, single submitter clinical testing The p.G926S variant (also known as c.2776G>A), located in coding exon 11 of the TERT gene, results from a G to A substitution at nucleotide position 2776. The glycine at codon 926 is replaced by serine, an amino acid with similar properties. This amino acid position is not conserved on species alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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