ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs)

dbSNP: rs1555811742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665835 SCV000790021 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2017-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855446 SCV002233255 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-05-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg655Profs*11) 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: 550933). For these reasons, this variant has been classified as Pathogenic.

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