ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4520T>G (p.Leu1507Ter)

dbSNP: rs1135402863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000497088 SCV001229547 pathogenic Neurofibromatosis, type 1 2019-05-25 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 an individual affected with neurofibromatosis type 1 (PMID: 28961165). ClinVar contains an entry for this variant (Variation ID: 431645). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1486*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Medical Genetics, University of Parma RCV000497088 SCV000588787 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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