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 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. This variant is not present in population databases (gnomAD no frequency). 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).

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