ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5780del (p.Leu1927fs)

dbSNP: rs1135402880
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506260 SCV000604523 pathogenic not specified 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000497163 SCV004296783 pathogenic Neurofibromatosis, type 1 2023-02-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431664). This sequence change creates a premature translational stop signal (p.Leu1906Trpfs*15) in the NF1 gene. It is expected to result in an absent or disrupted protein product. 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). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 26056819).
Medical Genetics, University of Parma RCV000497163 SCV000588808 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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