Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002530143 | SCV000650750 | uncertain significance | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2017-05-17 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TERT-related disease. This sequence change replaces serine with glycine at codon 843 of the TERT protein (p.Ser843Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. |
Ambry Genetics | RCV004559197 | SCV005049153 | uncertain significance | Dyskeratosis congenita | 2024-02-16 | criteria provided, single submitter | clinical testing | The p.S843G variant (also known as c.2527A>G), located in coding exon 9 of the TERT gene, results from an A to G substitution at nucleotide position 2527. The serine at codon 843 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |