ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3500-1G>A

dbSNP: rs1205986855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012366 SCV002284189 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-05-18 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with RTEL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 33 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).
Baylor Genetics RCV003471242 SCV004209801 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 2024-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004729021 SCV005339726 likely pathogenic RTEL1-related disorder 2024-07-09 no assertion criteria provided clinical testing The RTEL1 c.3572-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of South Asian descent in gnomAD. Variants that disrupt the consensus splice acceptor site in RTEL1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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