ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu)

gnomAD frequency: 0.00012  dbSNP: rs199698251
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503134 SCV000596850 uncertain significance not specified 2015-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001224131 SCV001396313 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 884 of the RTEL1 protein (p.Pro884Leu). This variant is present in population databases (rs199698251, gnomAD 0.04%). This missense change has been observed in individual(s) with aplastic anemia (PMID: 29344583). This variant is also known as c.2723C>T. ClinVar contains an entry for this variant (Variation ID: 436591). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001508906 SCV001715342 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing BP4
Mendelics RCV000503134 SCV002519293 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001834618 SCV002535335 uncertain significance Dyskeratosis congenita 2022-01-30 criteria provided, single submitter curation
Natera, Inc. RCV001834618 SCV002095480 uncertain significance Dyskeratosis congenita 2020-03-17 no assertion criteria provided clinical testing

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