ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln)

gnomAD frequency: 0.00001  dbSNP: rs533110479
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316616 SCV000666734 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-06-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000700485 SCV000829242 likely benign Neurofibromatosis, type 1 2025-01-17 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000700485 SCV002526042 uncertain significance Neurofibromatosis, type 1 2022-05-02 criteria provided, single submitter clinical testing The NF1 c.7286G>A (p.Arg2429Gln) missense change has a maximum subpopulation frequency of 0.0098% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). In silico tools are inconclusive about the effect of this variant on protein function, and to our knowledge functional assays have not been performed. This variant occurs in a gene where missense variants are more likely to be damaging based on methods described by Lek et al. (PP2; PMID: 27535533). To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 1. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PP2.
Genome-Nilou Lab RCV000700485 SCV002561060 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476229 SCV002774761 uncertain significance not provided 2021-06-11 criteria provided, single submitter clinical testing
GeneDx RCV002476229 SCV003842430 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365, 26757882)
Fulgent Genetics, Fulgent Genetics RCV005010539 SCV005639961 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-04-18 criteria provided, single submitter clinical testing

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