ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1017_1018CT[1] (p.Ser340fs) (rs1555610903)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659975 SCV000781890 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788498 SCV000927642 likely pathogenic not provided 2018-04-19 criteria provided, single submitter clinical testing
Invitae RCV000659975 SCV000954165 pathogenic Neurofibromatosis, type 1 2019-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser340Cysfs*12) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with neurofibromatosis type 1 (PMID: 9298829, 18546366, 20964122). ClinVar contains an entry for this variant (Variation ID: 547579). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009571 SCV001169672 pathogenic Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research
Ambry Genetics RCV001009689 SCV001169787 pathogenic Hereditary cancer-predisposing syndrome 2019-06-13 criteria provided, single submitter clinical testing The c.1019_1020delCT variant, located in coding exon 9 of the NF1 gene, results from a deletion of two nucleotides at nucleotide positions 1019 to 1020, causing a translational frameshift with a predicted alternate stop codon (p.S340Cfs*12). This mutation has been detected in one individual who met NIH diagnostic criteria for NF1 (Upadhyaya M, et al. Hum. Mutat. 1997;10(3):248-50). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Medical Genetics, University of Parma RCV000659975 SCV001218911 pathogenic Neurofibromatosis, type 1 2019-12-20 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000788498 SCV001447810 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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