Submissions for variant NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter)

dbSNP: rs1135402872

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000497245	SCV000782051	pathogenic	Neurofibromatosis, type 1	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000497245	SCV001386135	pathogenic	Neurofibromatosis, type 1	2023-04-22	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431656). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type I (PMID: 10980545, 23913538). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1810*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Genome-Nilou Lab	RCV000497245	SCV002560123	pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Medical Genetics, University of Parma	RCV000497245	SCV000588800	pathogenic	Neurofibromatosis, type 1	2017-02-02	no assertion criteria provided	clinical testing