ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.873G>A (p.Met291Ile)

gnomAD frequency: 0.00024  dbSNP: rs369585628
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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 RCV000692579 SCV000820409 uncertain significance Familial acute necrotizing encephalopathy 2022-02-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs369585628, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 291 of the RANBP2 protein (p.Met291Ile). ClinVar contains an entry for this variant (Variation ID: 571437). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").
Ambry Genetics RCV004659175 SCV005156732 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.873G>A (p.M291I) alteration is located in exon 7 (coding exon 7) of the RANBP2 gene. This alteration results from a G to A substitution at nucleotide position 873, causing the methionine (M) at amino acid position 291 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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