ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser)

gnomAD frequency: 0.00003  dbSNP: rs776712596
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258591 SCV002533572 uncertain significance Dyskeratosis congenita 2022-01-15 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094235 SCV003453432 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-09-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1007 of the RTEL1 protein (p.Thr1007Ser). This variant is present in population databases (rs776712596, gnomAD 0.007%). 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: 1692626). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV004534002 SCV004108774 uncertain significance RTEL1-related disorder 2023-07-27 criteria provided, single submitter clinical testing The RTEL1 c.3092C>G variant is predicted to result in the amino acid substitution p.Thr1031Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0073% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-62325752-C-G). 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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