ClinVar Miner

Submissions for variant NM_016418.5(NF2):c.517-1G>A (rs1064796632)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484883 SCV000573532 pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing The c.517-1 G>A splice site variant in the NF2 gene has been previously observed in meningiomas and schwannomas (Goutagny et al., 2010; Piotrowski et al., 2014). This pathogenic variant destroys the canonical splice acceptor site in intron 5, and is expected to cause abnormal gene splicing. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be pathogenic.
Invitae RCV001202383 SCV001373493 pathogenic Neurofibromatosis, type 2 2019-10-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the NF2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with neurofibromatosis type 2 in a family (Invitae). ClinVar contains an entry for this variant (Variation ID: 423789). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001202383 SCV001481184 pathogenic Neurofibromatosis, type 2 2020-06-18 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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