ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1555del (p.Gln519fs)

dbSNP: rs2066874267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061848 SCV001226607 pathogenic Neurofibromatosis, type 1 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln519Lysfs*7) 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: 26740943). ClinVar contains an entry for this variant (Variation ID: 856397). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467814 SCV004190802 pathogenic Juvenile myelomonocytic leukemia 2022-07-15 criteria provided, single submitter clinical testing

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