ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser)

gnomAD frequency: 0.00011  dbSNP: rs770243852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255954 SCV002533586 uncertain significance Dyskeratosis congenita 2021-05-18 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003774783 SCV004574891 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-06-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1692629). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is present in population databases (rs770243852, gnomAD 0.08%). This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1080 of the RTEL1 protein (p.Leu1080Ser).

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