ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter)

dbSNP: rs780546933
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674750 SCV000800141 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855614 SCV002155125 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln217*) 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 present in population databases (rs780546933, gnomAD 0.002%). 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: 558476). For these reasons, this variant has been classified as Pathogenic.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001855614 SCV002495936 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-03-17 criteria provided, single submitter clinical testing RTEL1 NM_032957.4 exon 8 p.Gln241* (c.721C>T): This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:558476). Evolutionary conservation and computational prediction tools for this variant are limited or unavailable. This variant is predicted to cause a stopgain at this codon, resulting in protein truncation or loss of allelic expression through nonsense-mediated mRNA decay. Loss of function variants have been reported in association with disease for this gene (Cogan 2015 PMID:25607374, Petrovski 2017 PMID:28099038). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.
Baylor Genetics RCV000674750 SCV004209806 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2023-03-11 criteria provided, single submitter clinical testing

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