ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg)

gnomAD frequency: 0.00012  dbSNP: rs776380363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547468 SCV000646819 uncertain significance Familial acute necrotizing encephalopathy 2023-07-07 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 469467). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs776380363, gnomAD 0.005%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1667 of the RANBP2 protein (p.Gly1667Arg). 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.
Ambry Genetics RCV004024085 SCV003752182 uncertain significance not specified 2022-12-15 criteria provided, single submitter clinical testing The c.4999G>A (p.G1667R) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a G to A substitution at nucleotide position 4999, causing the glycine (G) at amino acid position 1667 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530139 SCV001744845 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530139 SCV001967044 uncertain significance not provided no assertion criteria provided clinical testing

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