ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3343+8G>C

gnomAD frequency: 0.00001  dbSNP: rs768036242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001402543 SCV001604394 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-06-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531226 SCV004721764 uncertain significance RTEL1-related disorder 2024-01-29 no assertion criteria provided clinical testing The RTEL1 c.3415+8G>C variant is predicted to interfere with splicing. This variant is not predicted to change the strength of the canonical splice site but may result in the production of a new cryptic splice donor site according to an in silico splicing algorithm (SpliceAI, Jaganathan K, et al. 2019. PubMed ID: 30661751). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0037% 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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