ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) (rs121434502)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000008868 SCV000767770 pathogenic Encephalopathy, acute, infection-induced, 3, suceptibility to 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 585 of the RANBP2 protein (p.Thr585Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been identified in many individuals affected with acute necrotizing encephalopathy (ANE) (PMID: 26923722, 27591117, 21945312, 20473521, 26110162). In some affected individuals it has been reported to be de novo (PMID: 19811512, 19118815). It has also been reported to segregate with ANE in multiple affected families (PMID: 19118815, 25128471, 25522933, 21205700, 19811512, 28336122). The penetrance of this variant is estimated to be 40% (PMID: 19118815). ClinVar contains an entry for this variant (Variation ID: 8363). 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 C65"). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000008868 SCV000893546 pathogenic Encephalopathy, acute, infection-induced, 3, suceptibility to 2018-10-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000008868 SCV001251691 uncertain significance Encephalopathy, acute, infection-induced, 3, suceptibility to 2020-05-03 criteria provided, single submitter clinical testing
OMIM RCV000008868 SCV000029078 risk factor Encephalopathy, acute, infection-induced, 3, suceptibility to 2011-01-04 no assertion criteria provided literature only
GeneReviews RCV000008868 SCV000212035 pathogenic Encephalopathy, acute, infection-induced, 3, suceptibility to 2014-12-04 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000008868 SCV000734136 pathogenic Encephalopathy, acute, infection-induced, 3, suceptibility to no assertion criteria provided clinical testing

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