Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000807168 | SCV000947208 | uncertain significance | Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the RTEL1 gene. It does not directly change the encoded amino acid sequence of the RTEL1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201706459, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 651744). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |
Mayo Clinic Laboratories, |
RCV002261222 | SCV002541693 | uncertain significance | not provided | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000807168 | SCV002791696 | uncertain significance | Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2022-04-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534836 | SCV003742101 | uncertain significance | Inborn genetic diseases | 2021-09-02 | criteria provided, single submitter | clinical testing | The c.610+3A>G intronic alteration consists of a A to G substitution 3 nucleotides after exon 6 (coding exon 5) of the RTEL1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001275075 | SCV001459829 | uncertain significance | Dyskeratosis congenita | 2020-01-24 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004538107 | SCV004119997 | uncertain significance | RTEL1-related disorder | 2023-12-19 | no assertion criteria provided | clinical testing | The RTEL1 c.610+3A>G variant is predicted to interfere with splicing. However such prediction programs are imperfect and should be interpreted with caution. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |