ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg)

gnomAD frequency: 0.00004  dbSNP: rs750272281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002499483 SCV002790575 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002499483 SCV004571781 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 335 of the RTEL1 protein (p.Pro335Arg). This variant is present in population databases (rs750272281, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is also known as p.P112R, p.P359R. ClinVar contains an entry for this variant (Variation ID: 991703). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Natera, Inc. RCV001279958 SCV001467097 uncertain significance Dyskeratosis congenita 2020-05-20 no assertion criteria provided clinical testing

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