ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3870+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685073 SCV000812545 pathogenic Neurofibromatosis, type 1 2018-05-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 28 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 11409870, 17311297). This variant is also known as IVS22+1G>T in the literature. Experimental studies have shown that this variant abolishes the splice donor site of intron 28 and splicing instead occurs at a cryptic site in exon 28, which subsequently results in a truncation (PMID: 11409870, 17311297). Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000762989 SCV000893434 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing

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