ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6428-2A>C

dbSNP: rs1060500312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497119 SCV001200258 pathogenic Neurofibromatosis, type 1 2024-01-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 41 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type I (PMID: 28961165). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 431671). 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.
Medical Genetics, University of Parma RCV000497119 SCV000588816 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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