ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.173C>G (p.Ala58Gly)

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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 RCV002512448 SCV002822925 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-10-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 58 of the RTEL1 protein (p.Ala58Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs773669162, ExAC 0.01%). This missense change has been observed in individual(s) with severe chronic respiratory disease (PMID: 32662942). 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: "Deleterious"; PolyPhen-2: "Probably 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.

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