ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2223del (p.Ile742fs)

dbSNP: rs2090699166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250532 SCV001425344 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2020-02-04 criteria provided, single submitter clinical testing This RTEL1 variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This frameshift variant creates a premature stop codon at position 58 of the new reading frame, and is predicted to cause nonsense-mediated decay and lack of protein production. We consider this variant to be pathogenic.
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine RCV003325409 SCV003840223 pathogenic Telomere syndrome 2022-08-01 no assertion criteria provided clinical testing

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