ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)

dbSNP: rs199474748
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687480 SCV000815048 pathogenic Neurofibromatosis, type 1 2023-07-25 criteria provided, single submitter clinical testing This variant disrupts the p.Gly848 amino acid residue in NF1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17712740). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 848 of the NF1 protein (p.Gly848Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with neurofibromatosis type 1 (PMID: 12552569, 23812910, 25211147). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 68324). 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) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. For these reasons, this variant has been classified as Pathogenic.
UAB Medical Genomics Laboratory, UAB Medicine RCV000687480 SCV000999176 pathogenic Neurofibromatosis, type 1 2019-06-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000687480 SCV002561791 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490663 SCV002789512 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-05-18 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059176 SCV000090705 not provided not provided no assertion provided not provided

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