ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7395-?_*3522+?dup

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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 RCV000233170 SCV000284511 uncertain significance Neurofibromatosis, type 1 2016-01-16 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 50-57 of the NF1 gene. The 5' boundary is likely confined to intron 49. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. While this sequence change has not been published in the literature, gross duplications in NF1 are known to be pathogenic (PMID: 26189818, 25631097). In summary, because the exact 3' boundary of this variant has not been determined, and whether this duplication occurs in tandem is not known, the impact of this duplication on NF1 protein function can not be unequivocally established. Therefore, it has been classified as a Variant of Uncertain Significance.

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