Submissions for variant NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])

dbSNP: rs864622639

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000206539	SCV000261489	pathogenic	Neurofibromatosis, type 1	2024-01-05	criteria provided, single submitter	clinical testing	This variant, c.7096_7101del, results in the deletion of 2 amino acid(s) of the NF1 protein (p.Asn2366_Phe2367del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with neurofibromatosis (PMID: 8081387, 10862084, 18546366, 24789688). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 220715). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV002315635	SCV000663092	pathogenic	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	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	pathogenic	not provided	2022-05-11	criteria provided, single submitter	clinical testing	In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as p.2366delNF; This variant is associated with the following publications: (PMID: 32405727, 25293717, 18546366, 12807981, 25541118, 10862084, 8081387, 30014477, 31766501, 31533797, 31776437, 33372952)
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	RCV001009584	SCV001169685	pathogenic	Neurofibromatosis, type 1; Tibial pseudarthrosis	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 Center for Human Genetics Tuebingen	RCV000680827	SCV001249056	pathogenic	not provided	2019-12-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000206539	SCV001479216	pathogenic	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV000680827	SCV002503006	likely pathogenic	not provided	2020-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000206539	SCV002560558	likely pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000680827	SCV002771573	pathogenic	not provided	2022-06-17	criteria provided, single submitter	clinical testing	This variant has been identified in multiple unrelated individuals with clinical features of NF1, including at least one apparent de novo case. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In some published literature, this variant is referred to as c.7159_7164del.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000206539	SCV003837582	pathogenic	Neurofibromatosis, type 1	2023-03-09	criteria provided, single submitter	clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	RCV001257534	SCV001434360	pathogenic	Rhabdomyosarcoma	2020-09-01	no assertion criteria provided	provider interpretation