Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002550065 | SCV001563242 | uncertain significance | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2020-06-25 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with isoleucine at codon 579 of the TERT protein (p.Ser579Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TERT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 | RCV004557569 | SCV003911324 | uncertain significance | Dyskeratosis congenita | 2023-01-12 | criteria provided, single submitter | clinical testing | The p.S579I variant (also known as c.1736G>T), located in coding exon 3 of the TERT gene, results from a G to T substitution at nucleotide position 1736. The serine at codon 579 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |