ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1133A>G (p.Asn378Ser)

gnomAD frequency: 0.00002  dbSNP: rs370375563
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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 RCV001040509 SCV001204088 uncertain significance Familial acute necrotizing encephalopathy 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 378 of the RANBP2 protein (p.Asn378Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs370375563, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C45"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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