ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg)

dbSNP: rs2090752058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247762 SCV001421203 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-08-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 873 of the RTEL1 protein (p.Gly873Arg). This variant is not present in population databases (gnomAD no frequency). 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: 971878). 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: "Probably 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.
Sema4, Sema4 RCV001835304 SCV002535333 uncertain significance Dyskeratosis congenita 2021-09-11 criteria provided, single submitter curation
Natera, Inc. RCV001835304 SCV002095475 uncertain significance Dyskeratosis congenita 2020-01-24 no assertion criteria provided clinical testing

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