Submissions for variant NM_001042492.3(NF1):c.569T>G (p.Leu190Ter)

dbSNP: rs1555607112

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000498082	SCV000589601	pathogenic	not provided	2023-03-07	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation and nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24789688, 25074460, 23913538, 10712197, 31617914)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000632370	SCV000753548	pathogenic	Neurofibromatosis, type 1	2017-08-24	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been reported in individuals affected with neurofibromatosis type 1 (PMID: 24789688, 25074460). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu190*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab	RCV000632370	SCV002561584	pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	RCV000632370	SCV003840172	pathogenic	Neurofibromatosis, type 1		no assertion criteria provided	research