ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter)

dbSNP: rs776525427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005034283 SCV005663980 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-05-11 criteria provided, single submitter clinical testing
GeneDx RCV005223117 SCV005870304 pathogenic not provided 2024-08-23 criteria provided, single submitter clinical testing Nonsense 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); This variant is associated with the following publications: (PMID: 29920840)
Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology RCV000677222 SCV000803356 likely pathogenic Interstitial lung disease 2 2018-05-06 no assertion criteria provided case-control

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