ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.731-2A>C

dbSNP: rs1555608924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009569 SCV001169670 pathogenic Neurofibromatosis, type 1; Tibial pseudarthrosis 2018-11-10 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001207645 SCV001379008 pathogenic Neurofibromatosis, type 1 2025-01-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of neurofibromatosis type 1 (PMID: 12746402; internal data). ClinVar contains an entry for this variant (Variation ID: 818181). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001207645 SCV002561600 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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