ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.396-5A>C

gnomAD frequency: 0.00001  dbSNP: rs761890952
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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 RCV002167140 SCV002331404 likely benign Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529096 SCV004105606 uncertain significance RTEL1-related disorder 2023-07-27 criteria provided, single submitter clinical testing The RTEL1 c.463A>C variant is predicted to result in the amino acid substitution p.Thr155Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-62293894-A-C). 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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