ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7063-2A>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002900058 SCV003247268 pathogenic Neurofibromatosis, type 1 2021-12-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 46 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). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 16944272, 31533651). 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.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796745 SCV005418457 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4+PS4_Supporting

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