ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6399dup (p.Glu2134fs) (rs1135402888)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000497056 SCV000782074 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000497056 SCV000628714 pathogenic Neurofibromatosis, type 1 2018-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2134Argfs*14) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of neurofibromatosis type-1 (Invitae). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics,University of Parma RCV000497056 SCV000588818 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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