ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1485_1488dup (p.Val497fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003313756 SCV004012900 pathogenic Neurofibromatosis, type 1 2023-07-13 criteria provided, single submitter clinical testing The variant c.1485_1488dup (p.(Val497Hisfs*15)) in exon 13 of the NF1 gene is not found in the gnomAD database and it creates a frame shift starting at codon Val497. The new reading frame ends in a STOP codon at position 15. Variant was found de novo in our patient. ACMG criteria used for classification: PVS1, PM2_supp, PM6.

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