ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1874C>G (p.Pro625Arg)

dbSNP: rs2149230410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002027239 SCV002308972 uncertain significance Familial acute necrotizing encephalopathy 2022-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 C65"). ClinVar contains an entry for this variant (Variation ID: 1517282). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 625 of the RANBP2 protein (p.Pro625Arg).

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