ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu)

dbSNP: rs760398738
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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 RCV000555429 SCV000653564 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-09-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 552 of the RTEL1 protein (p.Ala552Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs760398738, ExAC 0.02%). 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: 473906). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001764606 SCV002000951 uncertain significance not provided 2020-04-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001764606 SCV004225519 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834807 SCV002095424 uncertain significance Dyskeratosis congenita 2020-08-24 no assertion criteria provided clinical testing

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