ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1414_1440dup (p.Val472_Lys480dup)

dbSNP: rs1597698326
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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 RCV000819729 SCV000960406 uncertain significance Neurofibromatosis, type 1 2018-07-02 criteria provided, single submitter clinical testing This variant, c.1414_1440dup, results in the insertion of 9 amino acids to the NF1 protein (p.Val472_Lys480dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. This variant has not been reported in the literature in individuals with NF1-related disease. This variant is not present in population databases (ExAC no frequency).

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