Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002547407 | SCV001535105 | uncertain significance | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2023-04-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1038001). This variant has not been reported in the literature in individuals affected with TERT-related conditions. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 311 of the TERT protein (p.Ser311Leu). 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. |
| Ambry Genetics | RCV004557550 | SCV003869039 | uncertain significance | Dyskeratosis congenita | 2023-02-23 | criteria provided, single submitter | clinical testing | The p.S311L variant (also known as c.932C>T), located in coding exon 2 of the TERT gene, results from a C to T substitution at nucleotide position 932. The serine at codon 311 is replaced by leucine, an amino acid with dissimilar 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. |
| Gene |
RCV004590342 | SCV005078015 | uncertain significance | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |