Submissions for variant NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter)

dbSNP: rs1135402815

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002319011	SCV001172659	pathogenic	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2019-12-03	criteria provided, single submitter	clinical testing	The p.E524* pathogenic mutation (also known as c.1570G>T), located in coding exon 14 of the NF1 gene, results from a G to T substitution at nucleotide position 1570. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. This alteration has been identified in an individual meeting diagnostic criteria for Neurofibromatosis Type 1 and in an individual diagnosed with a pheochromocytoma, gastrointestinal tumor (GIST) and a neuroendocrine tumor (NET) (Messiaen LM et al. Hum. Mutat., 2000;15:541-55; Poredska K et al. Diagn Pathol, 2019 Jul;14:77). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796207	SCV005418853	pathogenic	Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis		criteria provided, single submitter	clinical testing	PVS1+PM2_Supporting+PS4_Supporting+PP4
Medical Genetics, University of Parma	RCV000497127	SCV000588727	pathogenic	Neurofibromatosis, type 1	2017-02-02	no assertion criteria provided	clinical testing