Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001985140 | SCV002223654 | uncertain significance | Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 995 of the RTEL1 protein (p.Asp995Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV003170100 | SCV003901069 | uncertain significance | Inborn genetic diseases | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.3055G>A (p.D1019N) alteration is located in exon 30 (coding exon 29) of the RTEL1 gene. This alteration results from a G to A substitution at nucleotide position 3055, causing the aspartic acid (D) at amino acid position 1019 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |