Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001379967 | SCV001577883 | likely pathogenic | Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2022-06-09 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1068424). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant results in the deletion of part of exon 15 (c.1236_1266+47del) of the RTEL1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374). |
| Baylor Genetics | RCV003469644 | SCV004209795 | likely pathogenic | Dyskeratosis congenita, autosomal recessive 5 | 2023-05-28 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001831374 | SCV002095406 | likely pathogenic | Dyskeratosis congenita | 2021-10-14 | no assertion criteria provided | clinical testing |