ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.538+3A>G

gnomAD frequency: 0.00024  dbSNP: rs201706459
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807168 SCV000947208 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the RTEL1 gene. It does not directly change the encoded amino acid sequence of the RTEL1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201706459, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 651744). Variants that disrupt 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 is not likely to affect RNA splicing. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261222 SCV002541693 uncertain significance not provided 2021-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000807168 SCV002791696 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534836 SCV003742101 uncertain significance Inborn genetic diseases 2021-09-02 criteria provided, single submitter clinical testing The c.610+3A>G intronic alteration consists of a A to G substitution 3 nucleotides after exon 6 (coding exon 5) of the RTEL1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001275075 SCV001459829 uncertain significance Dyskeratosis congenita 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538107 SCV004119997 uncertain significance RTEL1-related disorder 2023-12-19 no assertion criteria provided clinical testing The RTEL1 c.610+3A>G variant is predicted to interfere with splicing. However such prediction programs are imperfect and should be interpreted with caution. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.036% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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