ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6858+1G>A (rs1060500355)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476980 SCV000542170 pathogenic Neurofibromatosis, type 1 2020-10-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 45 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with neurofibromatosis type 1 (PMID: 11735023, 11857752, 17426081, 10607834). ClinVar contains an entry for this variant (Variation ID: 404571). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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). For these reasons, this variant has been classified as Pathogenic.
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV000476980 SCV001499693 pathogenic Neurofibromatosis, type 1 2020-04-02 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000476980 SCV000588827 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000476980 SCV000692364 pathogenic Neurofibromatosis, type 1 2016-12-13 no assertion criteria provided clinical testing

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