ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6819+2T>C

dbSNP: rs1135402894
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000497188 SCV001591761 pathogenic Neurofibromatosis, type 1 2025-01-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 44 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of neurofibromatosis, type 1 (PMID: 18546366; internal data). ClinVar contains an entry for this variant (Variation ID: 431680). Studies have shown that disruption of this splice site results in skipping of exon 36, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 18546366). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002259343 SCV002538907 pathogenic not provided 2025-03-14 criteria provided, single submitter clinical testing Canonical splice site variant demonstrated to result in skipping of exon 44, also referred to as exon 36 by alternate exon numbering, in patient mRNA and predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease (PMID: 18546366); Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS36+2T>C; This variant is associated with the following publications: (PMID: 25525159, 18546366)
Genome-Nilou Lab RCV000497188 SCV002560212 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003464068 SCV004198368 pathogenic Juvenile myelomonocytic leukemia 2024-03-01 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497188 SCV000588825 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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