ClinVar Miner

Submissions for variant NC_000022.11:g.(?_29603989)_(29636886_?)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 RCV001033874 SCV001197181 pathogenic Neurofibromatosis, type 2 2019-04-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 of the NF2 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 2 of the NF2 gene. This is expected to result in an absent or disrupted protein product. A similar variant has been observed in an individual with NF2-related disease (PMID: 19968670). Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic.

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