ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)

dbSNP: rs1567862071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761316 SCV000891301 likely pathogenic Neurofibromatosis, type 1 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000761316 SCV000955088 pathogenic Neurofibromatosis, type 1 2018-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1418*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000761316 SCV002560034 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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