ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2435C>G (p.Pro812Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002455646 SCV002738838 uncertain significance Inborn genetic diseases 2021-11-29 criteria provided, single submitter clinical testing The p.P836R variant (also known as c.2507C>G), located in coding exon 26 of the RTEL1 gene, results from a C to G substitution at nucleotide position 2507. The proline at codon 836 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003101904 SCV003510550 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-09-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 812 of the RTEL1 protein (p.Pro812Arg). This variant is present in population databases (rs760162930, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. 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.

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