ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5995G>T (p.Asp1999Tyr)

dbSNP: rs779917838
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002005510 SCV002267142 uncertain significance Familial acute necrotizing encephalopathy 2022-12-06 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 RANBP2 protein function. ClinVar contains an entry for this variant (Variation ID: 1474438). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs779917838, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1999 of the RANBP2 protein (p.Asp1999Tyr).

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