ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8422_8427del (p.Cys2808_Asn2809del)

dbSNP: rs2070696010
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045449 SCV001209301 uncertain significance Neurofibromatosis, type 1 2019-05-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.8359_8364del, results in the deletion of 2 amino acid(s) of the NF1 protein (p.Cys2787_Asn2788del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with NF1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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.

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