ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7062+1_7062+5del

dbSNP: rs1567619134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693847 SCV000822268 pathogenic Neurofibromatosis, type 1 2023-12-12 criteria provided, single submitter clinical testing This sequence change affects a 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of NF1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 572463). 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.

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