ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.526C>T (p.Arg176Cys)

gnomAD frequency: 0.00004  dbSNP: rs543844917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646017 SCV000767773 uncertain significance Familial acute necrotizing encephalopathy 2022-07-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs543844917, gnomAD 0.04%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 537222). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 176 of the RANBP2 protein (p.Arg176Cys).
Ambry Genetics RCV004025693 SCV003719151 uncertain significance not specified 2022-03-11 criteria provided, single submitter clinical testing The c.526C>T (p.R176C) alteration is located in exon 5 (coding exon 5) of the RANBP2 gene. This alteration results from a C to T substitution at nucleotide position 526, causing the arginine (R) at amino acid position 176 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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