ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7096_7101del (rs864622639)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206539 SCV000261489 pathogenic Neurofibromatosis, type 1 2019-11-24 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 47 of the NF1 mRNA (c.7096_7101delAACTTT). This leads to the deletion of 2 amino acid residues in the NF1 protein (p.Asn2366_Phe2367del) but otherwise preserves the integrity of the reading frame. This variant is described as a common recurrent pathogenic mutation in the NF1 gene and has been observed in families and many individuals affected with neurofibromatosis (PMID: 8081387, 10862084, 18546366, 24789688). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000562847 SCV000663092 pathogenic Hereditary cancer-predisposing syndrome 2017-12-27 criteria provided, single submitter clinical testing ​The c.7096_7101delAACTTT pathogenic mutation (also known as p.N2366_F2367del) is located in coding exon 48 of the NF1 gene. This pathogenic mutation results from an in-frame AACTTT deletion between nucleotide positions 7096 and 7101. This results in an in-frame deletion of 2 amino acid residues at positions 2366 and 2367. This mutation has been reported as a common recurrent pathogenic mutation in several individuals with clinical diagnoses of NF1, and was confirmed as a de novo mutation in one individual with sporadic NF1 (Xu W et al. Int. J. Mol. Med., 2014 Jul;34:53-60; Pros E et al. Hum. Mutat. 2008 Sep;29(9):E173-93; Messiaen LM et al. Hum. Mutat. 2000;15(6):541-55; Abernathy CR et al. Hum. Mutat. 1994;3(4):347-52). Based on the available evidence, this variant is interpreted as a pathogenic mutation.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000206539 SCV000782100 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000680827 SCV000808275 likely pathogenic not provided 2018-06-15 criteria provided, single submitter clinical testing The c.7096_7101delAACTTT variant has been published previously in association with neurofibromatosis type 1, including an apparently de novo occurrence (Abernathy et al., 1994; Messiaen et al., 2000; Duat et al., 2015). The variant is not observed in large population cohorts (Lek et al., 2016). It results in the in-frame deletion of 2 amino acids. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, this variant is likely pathogenic.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009584 SCV001169685 pathogenic Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research
Medical Genetics, University of Parma RCV000206539 SCV001218929 pathogenic Neurofibromatosis, type 1 2019-12-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000680827 SCV001249056 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001257534 SCV001434360 pathogenic Rhabdomyosarcoma (disease) 2020-09-01 no assertion criteria provided provider interpretation

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