ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1228_1266+39del

dbSNP: rs2090573767
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990601 SCV002250483 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-10-12 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 15 (c.1228_1266+39del) of the RTEL1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individual(s) with interstitial lung disease (PMID: 30523160). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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