ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6921+1G>T

dbSNP: rs1060500355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660108 SCV000782092 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000660108 SCV003441878 pathogenic Neurofibromatosis, type 1 2023-12-07 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 45 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 individual(s) with neurofibromatosis type 1 (PMID: 17311297, 31370276). ClinVar contains an entry for this variant (Variation ID: 547687). 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.
Baylor Genetics RCV003465429 SCV004190682 pathogenic Juvenile myelomonocytic leukemia 2023-06-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480747 SCV004224750 likely pathogenic not provided 2022-10-07 criteria provided, single submitter clinical testing PM2, PVS1_strong

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