Submissions for variant NM_001042492.3(NF1):c.1599C>G (p.Val533=)

gnomAD frequency: 0.00013  dbSNP: rs369458366

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163792	SCV000214373	likely benign	Hereditary cancer-predisposing syndrome	2014-11-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV000206359	SCV000260079	benign	Neurofibromatosis, type 1	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001706077	SCV000726815	likely benign	not provided	2021-05-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27534895)
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000206359	SCV000781918	likely benign	Neurofibromatosis, type 1	2016-11-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000606948	SCV001442756	likely benign	not specified	2020-10-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000206359	SCV001479199	likely benign	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163792	SCV002527410	benign	Hereditary cancer-predisposing syndrome	2021-06-10	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000206359	SCV002560472	benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000606948	SCV004222156	benign	not specified	2023-10-18	criteria provided, single submitter	clinical testing	The frequency of this variant in the general population (http://gnomad.broadinstitute.org) is higher than would generally be expected for pathogenic variants in this gene. Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing. This nucleotide position exhibits low evolutionary conservation.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000163792	SCV004228107	likely benign	Hereditary cancer-predisposing syndrome	2023-09-05	criteria provided, single submitter	clinical testing