Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000674336 | SCV000799658 | likely pathogenic | Dyskeratosis congenita, autosomal recessive 5 | 2018-04-27 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001861841 | SCV002240606 | pathogenic | Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 2024-07-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe299Leufs*10) in the RTEL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374). This variant is not present in population databases (gnomAD no frequency). 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: 558110). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
| Prevention |
RCV004527730 | SCV004103463 | likely pathogenic | RTEL1-related disorder | 2023-09-28 | criteria provided, single submitter | clinical testing | The RTEL1 c.969delC variant is predicted to result in a frameshift and premature protein termination (p.Phe323Leufs*10). To our knowledge, this variant has not been reported in literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in RTEL1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |
| Baylor Genetics | RCV000674336 | SCV004209796 | likely pathogenic | Dyskeratosis congenita, autosomal recessive 5 | 2023-11-20 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV004723057 | SCV005332085 | likely pathogenic | not provided | 2024-03-26 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |