Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503102 | SCV000597474 | uncertain significance | not specified | 2019-02-27 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508163 | SCV001714130 | uncertain significance | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002527300 | SCV002281512 | uncertain significance | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 743 of the TERT protein (p.Arg743Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with premature greying of the hair, coronary artery disease and myelodysplastic syndrome (PMID: 24833766). ClinVar contains an entry for this variant (Variation ID: 436991). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |