ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1392+1del

dbSNP: rs1060500347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457531 SCV000542159 pathogenic Neurofibromatosis, type 1 2021-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser465Valfs*8) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 404560). This variant is also known as c.1392+1del. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 28961165). This variant is not present in population databases (ExAC no frequency).
Medical Genetics, University of Parma RCV000457531 SCV000588716 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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