ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.289-2A>G

dbSNP: rs2143670119
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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 RCV001963245 SCV002239694 pathogenic Neurofibromatosis, type 1 2021-04-29 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, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with NF1-related conditions (PMID: 18800150). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 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).
Baylor Genetics RCV003471197 SCV004190773 pathogenic Juvenile myelomonocytic leukemia 2022-12-14 criteria provided, single submitter clinical testing

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