Submissions for variant NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)

gnomAD frequency: 0.00127  dbSNP: rs55865524

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163326	SCV000213858	likely benign	Hereditary cancer-predisposing syndrome	2014-06-13	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	RCV000196075	SCV000252691	benign	Neurofibromatosis, type 1	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222469	SCV000270629	likely benign	not specified	2015-10-13	criteria provided, single submitter	clinical testing	p.Gln2528Gln in exon 51 of NF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.13% (83/66330) o f European American chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs55865524).
GeneDx	RCV000679414	SCV000527011	likely benign	not provided	2021-03-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31573083, 27534895)
Mendelics	RCV000196075	SCV001140396	likely benign	Neurofibromatosis, type 1	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679414	SCV001151265	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NF1: BP4, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000222469	SCV001337802	benign	not specified	2020-01-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000196075	SCV001479097	likely benign	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000222469	SCV002071900	benign	not specified	2021-07-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163326	SCV002528113	likely benign	Hereditary cancer-predisposing syndrome	2021-07-12	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000196075	SCV002561306	likely benign	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492647	SCV002800057	likely benign	Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis	2021-11-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551391	SCV000306296	benign	NF1-related disorder	2020-01-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Medical Genetics, University of Parma	RCV000196075	SCV000588839	uncertain significance	Neurofibromatosis, type 1	2017-02-02	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000679414	SCV001807806	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000222469	SCV001975713	benign	not specified		no assertion criteria provided	clinical testing