ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.586+2T>C

dbSNP: rs1135402791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497162 SCV003461899 pathogenic Neurofibromatosis, type 1 2023-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. RNA analysis provides insufficient evidence to determine the effect of this variant on NF1 splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 431565). Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 31766501). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 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).
Medical Genetics, University of Parma RCV000497162 SCV000588699 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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