Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001240680 | SCV001413649 | uncertain significance | Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 1010 of the RTEL1 protein (p.Thr1010Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. 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. |
Ambry Genetics | RCV004960622 | SCV005492742 | uncertain significance | Inborn genetic diseases | 2024-11-30 | criteria provided, single submitter | clinical testing | The p.T1010M variant (also known as c.3029C>T), located in coding exon 30 of the RTEL1 gene, results from a C to T substitution at nucleotide position 3029. The threonine at codon 1010 is replaced by methionine, 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 variant remains unclear. |
Natera, |
RCV001834127 | SCV002095527 | uncertain significance | Dyskeratosis congenita | 2020-10-22 | no assertion criteria provided | clinical testing |