ClinVar Miner

Submissions for variant NC_000022.10:g.(?_30035073)_(30035207_?)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 RCV001377761 SCV001575174 likely pathogenic Neurofibromatosis, type 2 2016-09-03 criteria provided, single submitter clinical testing A similar deletion of exon 3 has been reported in an individual wtih neurofibromatosis type 2 (PMID: 19968670). This variant is a gross deletion of the genomic region encompassing exon 3 of the NF2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. Experimental studies have not been reported for this in-frame deletion, and it is currently unknown if the amino acids encoded by this exon are critical for protein function. In summary, this variant is a rare deletion of a single in-frame exon with uncertain impact on protein function that has been reported in an affected individual. This evidence strongly supports that the variant is pathogenic, but the available data is currently insufficient to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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