ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)

dbSNP: rs1567849208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209023 SCV001380442 pathogenic Neurofibromatosis, type 1 2023-08-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp946*) 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 premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 16835897). This variant is also known as c.2835_2836insT (p.Phe944fs, PTC946). ClinVar contains an entry for this variant (Variation ID: 939599). For these reasons, this variant has been classified as Pathogenic.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729814 SCV001979695 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729814 SCV001980594 pathogenic not provided no assertion criteria provided clinical testing

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