ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1525dup (p.Cys509fs)

dbSNP: rs1135402813
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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 RCV000497090 SCV004539080 pathogenic Neurofibromatosis, type 1 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys509Leufs*2) 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 neurofibromatosis type 1 (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431588). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics, University of Parma RCV000497090 SCV000588724 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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