Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002552928 | SCV002150877 | uncertain significance | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2021-10-13 | 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. This variant has not been reported in the literature in individuals with TERT-related conditions. This variant is present in population databases (rs759137449, ExAC 0.004%). This sequence change replaces alanine with serine at codon 181 of the TERT protein (p.Ala181Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. |
| Ambry Genetics | RCV004558700 | SCV005048951 | uncertain significance | Dyskeratosis congenita | 2024-02-06 | criteria provided, single submitter | clinical testing | The p.A181S variant (also known as c.541G>T), located in coding exon 2 of the TERT gene, results from a G to T substitution at nucleotide position 541. The alanine at codon 181 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |