ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)

gnomAD frequency: 0.00001  dbSNP: rs779034900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632302 SCV000753478 uncertain significance Neurofibromatosis, type 1 2023-12-13 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 282 of the NF1 protein (p.Gln282Arg). 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: 527438). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NF1 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000765344 SCV000896608 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343217 SCV001178994 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-02 criteria provided, single submitter clinical testing The p.Q282R variant (also known as c.845A>G), located in coding exon 8 of the NF1 gene, results from an A to G substitution at nucleotide position 845. The glutamine at codon 282 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000632302 SCV002561833 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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