ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2991-2A>T

dbSNP: rs1555614495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045710 SCV001209580 pathogenic Neurofibromatosis, type 1 2019-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). Disruption of this splice site has been observed in individuals with clinical features of Neurofibromatosis-Noonan syndrome and neurofibromatosis type 1 (PMID: 24357598, 28529006, 10543400, 8829638, 10712197). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 22 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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