ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=)

gnomAD frequency: 0.00002  dbSNP: rs201784607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257286 SCV002535336 uncertain significance Dyskeratosis congenita 2021-12-28 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094234 SCV003523020 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-03 criteria provided, single submitter clinical testing This sequence change affects codon 884 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 also falls at the last nucleotide of exon 28 of the RTEL1 coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs201784607, ExAC 0.003%). This variant has not been reported in the literature in individuals with RTEL1-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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