Submissions for variant NM_001042492.3(NF1):c.4332+2T>C

dbSNP: rs786204207

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000168300	SCV000218981	pathogenic	Neurofibromatosis, type 1	2024-01-20	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 31 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 16461335, 28961165, 30014477; Invitae). ClinVar contains an entry for this variant (Variation ID: 188306). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000168300	SCV000782015	likely pathogenic	Neurofibromatosis, type 1	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000168300	SCV002560040	pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
MutSpliceDB: a database of splice sites variants effects on splicing, NIH	RCV000786798	SCV000925688	not provided	not provided		no assertion provided	in vitro