ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr)

gnomAD frequency: 0.00011  dbSNP: rs199711632
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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 RCV000823404 SCV000964263 uncertain significance Familial acute necrotizing encephalopathy 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1730 of the RANBP2 protein (p.Cys1730Tyr). This variant is present in population databases (rs199711632, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 665179). 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 disruptive. 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 RCV004029142 SCV003737102 uncertain significance not specified 2022-03-25 criteria provided, single submitter clinical testing The c.5189G>A (p.C1730Y) 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 5189, causing the cysteine (C) at amino acid position 1730 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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