ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1340+2T>G

dbSNP: rs1601649049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990418 SCV001141399 pathogenic Neurofibromatosis, type 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990418 SCV002177652 pathogenic Neurofibromatosis, type 2 2021-10-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the NF2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 803675). Disruption of this splice site has been observed in individuals with clinical features of neurofibromatosis type 2 (PMID: 7535084, 15684865; Invitae). This variant is not present in population databases (gnomAD no frequency).

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