ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7189+1G>T

dbSNP: rs1555535455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248429 SCV001421916 pathogenic Neurofibromatosis, type 1 2019-10-09 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in several individuals affected with neurofibromatosis, type 1 (PMID: 23913538, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 47 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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