ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1575A>G (p.Lys525=) (rs1060503673)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474672 SCV000553683 uncertain significance Neurofibromatosis, type 2 2018-09-13 criteria provided, single submitter clinical testing This sequence change affects codon 525 of the NF2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NF2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF2-related disease. ClinVar contains an entry for this variant (Variation ID: 412214). 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.

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