ClinVar Miner

Submissions for variant NC_000022.11:g.(?_29668333)_(29671948_?)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 RCV000468330 SCV000564039 likely pathogenic Neurofibromatosis, type 2 2016-04-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 10-11 of the NF2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This copy number variant has not been reported in the literature in individuals with a NF2-related disease. A missense variant in exon 11 (p.Thr352Met) has been reported as pathogenic in individuals with neurofibromatosis, type 2 (PMID: 8081368, 10712203). This suggests that the threonine residue at codon 352 is required for NF2 protein function. In summary, this is a novel deletion that eliminates an important amino acid residue and is predicted to be deleterious. However, in the absence of additional clinical and/or functional data, this variant has been classified as Likely Pathogenic.

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