ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1103dup (p.Ser368fs)

dbSNP: rs2066519656
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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 RCV001044119 SCV001207896 pathogenic Neurofibromatosis, type 1 2019-12-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related conditions. 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. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser368Argfs*11) in the NF1 gene. It is expected to result in an absent or disrupted protein product.

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