ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2325+1G>C

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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 RCV002838915 SCV003215007 pathogenic Neurofibromatosis, type 1 2022-06-29 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. Disruption of this splice site has been observed in individuals with neurofibromatosis type 1 (PMID: 12687660, 23758643). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 19 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 RCV003464612 SCV004199019 likely pathogenic Juvenile myelomonocytic leukemia 2021-08-18 criteria provided, single submitter clinical testing

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