ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1603C>T (p.Gln535Ter) (rs1567843917)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693256 SCV000821116 pathogenic Neurofibromatosis, type 1 2019-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln535*) 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 reported in an individual affected with neurofibromatosis type 1 (PMID: 26740943). ClinVar contains an entry for this variant (Variation ID: 571976). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009574 SCV001169675 pathogenic Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research

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