ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.396-19C>T

gnomAD frequency: 0.00003  dbSNP: rs767850154
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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 RCV002210125 SCV002365887 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734427 SCV005358583 uncertain significance RTEL1-related disorder 2024-09-28 no assertion criteria provided clinical testing The RTEL1 c.449C>T variant is predicted to result in the amino acid substitution p.Thr150Met. This variant was reported in two large cohorts with developmental disorders (Table S1, Kaplanis et al. 2020. PubMed ID: 33057194; Supplementary Data 3, Zhou et al. 2022. PubMed ID: 35982159). This variant is reported in 0.0066% of alleles in individuals of South Asian 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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