Submissions for variant NM_001042492.3(NF1):c.2410-13A>G

dbSNP: rs1567848711

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Medical Genomics Laboratory, Department of Genetics UAB	RCV000991071	SCV001167422	pathogenic	Neurofibromatosis, type 1	2020-01-20	criteria provided, single submitter	clinical testing
Invitae	RCV000991071	SCV002114047	pathogenic	Neurofibromatosis, type 1	2023-07-21	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 32126153). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 804167). This variant has been observed in individuals with clinical features of neurofibromatosis type 1 (PMID: 32126153; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 20 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
Genome-Nilou Lab	RCV000991071	SCV002561768	likely pathogenic	Neurofibromatosis, type 1	2022-03-15	criteria provided, single submitter	clinical testing
Medical Genetics, University of Parma	RCV000991071	SCV002567782	likely pathogenic	Neurofibromatosis, type 1	2022-08-17	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Cologne University	RCV000991071	SCV001134954	uncertain significance	Neurofibromatosis, type 1		no assertion criteria provided	clinical testing