ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.574C>T (p.Arg192Ter) (rs397514641)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000033171 SCV000218634 pathogenic Neurofibromatosis, type 1 2019-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg192*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397514641, ExAC 0.002%). This variant has been reported in the literature in individuals affected with neurofibromatosis type 1 (PMID: 10726756, 10712197, 15146469, 26056819, 16835897, 27838393, 21278392). ClinVar contains an entry for this variant (Variation ID: 40093). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000442381 SCV000521057 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing This variant is denoted NF1 c.574C>T at the cDNA level and p.Arg192Ter (R192X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in several individuals with neurofibromatosis type 1 (Fahsold 2000, Messiaen 2000, Toliat 2000, Bottillo 2009, Zhang 2015, Cali 2016) and is considered pathogenic.
Ambry Genetics RCV000492110 SCV000581337 pathogenic Hereditary cancer-predisposing syndrome 2019-03-26 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Medical Genetics, University of Parma RCV000033171 SCV000588698 pathogenic Neurofibromatosis, type 1 2019-12-20 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626737 SCV000747440 pathogenic Multiple cafe-au-lait spots; Axillary freckling; Focal T2 hyperintense basal ganglia lesion 2017-01-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000033171 SCV000781874 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000442381 SCV000842893 pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000033171 SCV000999356 pathogenic Neurofibromatosis, type 1 criteria provided, single submitter clinical testing
OMIM RCV000033171 SCV000056953 pathogenic Neurofibromatosis, type 1 2007-08-01 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003806 SCV001162255 likely pathogenic Juvenile myelomonocytic leukemia; Neurofibromas no assertion criteria provided research

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