ClinVar Miner

Submissions for variant NM_002907.4(RECQL):c.1831G>C (p.Gly611Arg)

gnomAD frequency: 0.00001  dbSNP: rs541752188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756843 SCV001995071 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001756843 SCV002116730 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs541752188, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RECQL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1309775). 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. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 611 of the RECQL protein (p.Gly611Arg).
Ambry Genetics RCV004040194 SCV003871711 uncertain significance not specified 2025-01-25 criteria provided, single submitter clinical testing The p.G611R variant (also known as c.1831G>C), located in coding exon 14 of the RECQL gene, results from a G to C substitution at nucleotide position 1831. The glycine at codon 611 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001756843 SCV005623999 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing The RECQL c.1831G>C (p.Gly611Arg) variant has not been reported in individuals with RECQL-related conditions in the published literature. The frequency of this variant in the general population, 0.0000099 (2/202994 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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