ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.69C>G (p.Thr23=)

dbSNP: rs2064716137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238731 SCV001411559 uncertain significance Neurofibromatosis, type 2 2022-10-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 964500). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 23 of the NF2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NF2 protein.

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