ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3287_3295del (p.Met1096_Ala1098del)

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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 RCV002791320 SCV003200396 uncertain significance Neurofibromatosis, type 1 2022-06-15 criteria provided, single submitter clinical testing This variant, c.3287_3295del, results in the deletion of 3 amino acid(s) of the NF1 protein (p.Met1096_Ala1098del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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. This variant has not been reported in the literature in individuals affected with NF1-related conditions.

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