ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1683G>A (p.Trp561Ter)

dbSNP: rs1135402820
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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 RCV000497046 SCV003461901 pathogenic Neurofibromatosis, type 1 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp561*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with NF1-related conditions (PMID: 28961165, 30530636, 31776437). ClinVar contains an entry for this variant (Variation ID: 431596). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Medical Genetics, University of Parma RCV000497046 SCV000588732 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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