ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.391A>C (p.Ile131Leu)

dbSNP: rs878853927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227774 SCV000284552 uncertain significance Neurofibromatosis, type 2 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 131 of the NF2 protein (p.Ile131Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 237624). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF2 protein function. 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.
Baylor Genetics RCV003469147 SCV004199065 uncertain significance Familial meningioma 2023-06-21 criteria provided, single submitter clinical testing

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