ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.230A>G (p.Gln77Arg)

gnomAD frequency: 0.00001  dbSNP: rs771462323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316246 SCV001506855 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 77 of the RTEL1 protein (p.Gln77Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1017136). 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.
Ambry Genetics RCV004960752 SCV005492674 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The p.Q77R variant (also known as c.230A>G), located in coding exon 2 of the RTEL1 gene, results from an A to G substitution at nucleotide position 230. The glutamine at codon 77 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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