ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7062+2T>C

dbSNP: rs1135402898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497121 SCV003461784 pathogenic Neurofibromatosis, type 1 2022-10-10 criteria provided, single submitter clinical testing This sequence change affects a donor 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 431684). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 28961165). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).
Medical Genetics, University of Parma RCV000497121 SCV000588830 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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