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
Labcorp Genetics (formerly Invitae), Labcorp RCV000497162 SCV003461899 pathogenic Neurofibromatosis, type 1 2024-10-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the NF1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. 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 1 (PMID: 31766501). ClinVar contains an entry for this variant (Variation ID: 431565). Studies have shown that disruption of this splice site results in skipping of exon 5, and produces a non-functional protein and/or introduces a premature termination codon (internal data). For these reasons, this variant has been classified as Pathogenic.
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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