ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs)

dbSNP: rs752833281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671530 SCV000796515 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2017-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531287 SCV002931666 pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser863Argfs*40) 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 (rs752833281, gnomAD 0.0009%). 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: 555667). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000671530 SCV004209785 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2023-07-11 criteria provided, single submitter clinical testing

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