ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.715T>A (p.Tyr239Asn)

dbSNP: rs1405042231
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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 RCV000646002 SCV000767757 uncertain significance Familial acute necrotizing encephalopathy 2019-06-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 239 of the RANBP2 protein (p.Tyr239Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RANBP2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C). 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. 5

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