ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1949T>A (p.Leu650Ter)

dbSNP: rs1135402826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497234 SCV001391421 pathogenic Neurofibromatosis, type 1 2019-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in several individuals with neurofibromatosis type 1 (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431603). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu650*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Medical Genetics, University of Parma RCV000497234 SCV000588740 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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