ClinVar Miner

Submissions for variant NM_016418.5(NF2):c.676-2A>G (rs1060503666)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468441 SCV000553665 pathogenic Neurofibromatosis, type 2 2016-06-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the NF2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic. This particular variant has been reported in the literature in a patient with three non-vestibular schwannomas, consistent with neurofibromatosis type 2 (NF2) (PMID: 21906157). It has also been seen in an individual with classic NF2 symptoms (Invitae database). For these reasons, this variant has been classified as Pathogenic.

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