ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)

gnomAD frequency: 0.00001  dbSNP: rs1203924788
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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 RCV001067898 SCV001232981 uncertain significance Neurofibromatosis, type 1 2024-11-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 782 of the NF1 protein (p.Ala782Gly). 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: 861382). 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 not expected to disrupt NF1 protein function with a negative 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238299 SCV002011208 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001067898 SCV002562031 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445350 SCV002733057 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-11-30 criteria provided, single submitter clinical testing The p.A782G variant (also known as c.2345C>G), located in coding exon 20 of the NF1 gene, results from a C to G substitution at nucleotide position 2345. The alanine at codon 782 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Baylor Genetics RCV003462605 SCV004190721 uncertain significance Juvenile myelomonocytic leukemia 2023-05-22 criteria provided, single submitter clinical testing

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