ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1899C>T (p.Phe633=)

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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 RCV003784262 SCV004572339 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-10-07 criteria provided, single submitter clinical testing This sequence change affects codon 633 of the RTEL1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RTEL1 protein. This variant is present in population databases (rs777829976, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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