ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys)

gnomAD frequency: 0.00014  dbSNP: rs374441172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218162 SCV001390034 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1121 of the RTEL1 protein (p.Arg1121Cys). This variant is present in population databases (rs374441172, gnomAD 0.05%). 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: 947153). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001833894 SCV002533592 uncertain significance Dyskeratosis congenita 2021-10-28 criteria provided, single submitter curation
Ambry Genetics RCV003346378 SCV004060709 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.3433C>T (p.R1145C) alteration is located in exon 33 (coding exon 32) of the RTEL1 gene. This alteration results from a C to T substitution at nucleotide position 3433, causing the arginine (R) at amino acid position 1145 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833894 SCV002095558 uncertain significance Dyskeratosis congenita 2020-04-22 no assertion criteria provided clinical testing

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