ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1468C>T (p.Pro490Ser)

dbSNP: rs776076922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817812 SCV000958395 uncertain significance Neurofibromatosis, type 2 2023-03-30 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. 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. ClinVar contains an entry for this variant (Variation ID: 660588). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is present in population databases (rs776076922, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 490 of the NF2 protein (p.Pro490Ser).
Ambry Genetics RCV002390670 SCV002701259 likely benign Hereditary cancer-predisposing syndrome 2021-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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