ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5536C>G (p.Arg1846Gly)

dbSNP: rs769843989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319638 SCV001186124 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-11-13 criteria provided, single submitter clinical testing The p.R1825G variant (also known as c.5473C>G), located in coding exon 37 of the NF1 gene, results from a C to G substitution at nucleotide position 5473. The arginine at codon 1825 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 RCV001226838 SCV001399165 uncertain significance Neurofibromatosis, type 1 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1825 of the NF1 protein (p.Arg1825Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 825761). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt NF1 protein function with a positive predictive value of 95%. 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.
Genome-Nilou Lab RCV001226838 SCV002560880 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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