ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) (rs766339217)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632635 SCV000753820 uncertain significance Neurofibromatosis, type 2 2020-03-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 482 of the NF2 protein (p.Pro482Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs766339217, ExAC 0.09%). This variant has not been reported in the literature in individuals with NF2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0. The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Mendelics RCV000632635 SCV000839524 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing

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