ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.326T>C (p.Leu109Pro)

dbSNP: rs1601583740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792556 SCV000931860 uncertain significance Neurofibromatosis, type 2 2022-07-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF2-related conditions. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 639691). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 109 of the NF2 protein (p.Leu109Pro).

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