ClinVar Miner

Submissions for variant NC_000017.11:g.(?_31094927)_(31095369_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461569 SCV000563793 pathogenic Neurofibromatosis, type 1 2017-01-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the NF1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the NF1 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic. This particular deletion of exon 1 has been reported in individuals affected with neurofibromatosis type 1 (NF1) (PMID: 16283621). For these reasons, this variant has been classified as Pathogenic.

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