ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1477_1525dup (p.Cys509fs)

dbSNP: rs2143959812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388731 SCV001589807 pathogenic Neurofibromatosis, type 1 2020-10-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with NF1-related conditions. This sequence change creates a premature translational stop signal (p.Cys509Serfs*18) in the NF1 gene. It is expected to result in an absent or disrupted protein product.

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