ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser)

gnomAD frequency: 0.00001  dbSNP: rs368303890
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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 RCV001246946 SCV001420341 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1050 of the RTEL1 protein (p.Pro1050Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 971211). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509073 SCV001715585 uncertain significance not provided 2021-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830000 SCV002095542 uncertain significance Dyskeratosis congenita 2020-02-26 no assertion criteria provided clinical testing

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