Submissions for variant NM_001042492.3(NF1):c.1183_1185+2del

dbSNP: rs1555611039

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000553362	SCV000628351	likely pathogenic	Neurofibromatosis, type 1	2017-06-05	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with a NF1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change deletes the last three nucleotides in exon 10 and affects a donor splice site in intron 10 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000553362	SCV001479151	pathogenic	Neurofibromatosis, type 1	2020-10-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000553362	SCV002561634	pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing