ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003781826 SCV004574433 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 665 of the RTEL1 protein (p.Glu665Lys). This variant is present in population databases (rs768397005, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of RTEL1-related conditions (PMID: 31677132). 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.

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