ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31334832)_(31335037_?)del

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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 RCV000632629 SCV000753814 pathogenic Neurofibromatosis, type 1 2018-01-11 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 39 of the NF1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exon 39 has not been reported in the literature in individuals with NF1-related disease. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.

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