ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)

dbSNP: rs121434504
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000008870 SCV001135923 pathogenic Familial acute necrotizing encephalopathy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000008870 SCV002296791 uncertain significance Familial acute necrotizing encephalopathy 2023-09-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 656 of the RANBP2 protein (p.Ile656Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with acute necrotizing encephalopathy (PMID: 19118815, 22030434). This variant is also known as c.2094A>G, g.33868A>G. ClinVar contains an entry for this variant (Variation ID: 8365). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV000008870 SCV005049751 likely pathogenic Familial acute necrotizing encephalopathy 2024-03-15 criteria provided, single submitter clinical testing
OMIM RCV000008870 SCV000029080 risk factor Familial acute necrotizing encephalopathy 2009-01-01 no assertion criteria provided literature only
GeneReviews RCV000008870 SCV000212037 not provided Familial acute necrotizing encephalopathy no assertion provided literature only

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