ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1482-10C>T

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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 RCV003791870 SCV004586716 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-01-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 17 of the RTEL1 gene. It does not directly change the encoded amino acid sequence of the RTEL1 protein.

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