ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) (rs1597712392)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009579 SCV001169680 pathogenic Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research
Invitae RCV001223770 SCV001395932 pathogenic Neurofibromatosis, type 1 2019-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln682*) 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 affected with neurofibromatosis type I (PMID: 9452037). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.

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