ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6613G>A (p.Gly2205Ser)

dbSNP: rs755789696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342414 SCV001536345 uncertain significance Familial acute necrotizing encephalopathy 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 2205 of the RANBP2 protein (p.Gly2205Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. 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 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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.

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