ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1845+1_1845+5del

dbSNP: rs1135402822
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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 RCV000497051 SCV001207031 pathogenic Neurofibromatosis, type 1 2023-08-09 criteria provided, single submitter clinical testing 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: 431598). Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 9195229, 10712197, 11292340). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a splice site in intron 16 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 RCV000497051 SCV000588735 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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