Submissions for variant NM_001042492.3(NF1):c.4263G>A (p.Pro1421=)

gnomAD frequency: 0.00005  dbSNP: rs201648604

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164618	SCV000215282	likely benign	Hereditary cancer-predisposing syndrome	2014-09-26	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.
Invitae	RCV000198948	SCV000253211	likely benign	Neurofibromatosis, type 1	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001753559	SCV002005616	likely benign	not provided	2021-04-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22034633)
Sema4, Sema4	RCV000164618	SCV002527564	likely benign	Hereditary cancer-predisposing syndrome	2021-09-13	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000198948	SCV002560721	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478505	SCV002800986	likely benign	Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis	2021-12-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004552893	SCV004762437	likely benign	NF1-related disorder	2019-10-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).