ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4550C>T (p.Thr1517Ile)

dbSNP: rs1484293010
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001312359 SCV001502807 uncertain significance Familial acute necrotizing encephalopathy 2022-03-19 criteria provided, single submitter clinical testing 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"). 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. ClinVar contains an entry for this variant (Variation ID: 1013730). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1517 of the RANBP2 protein (p.Thr1517Ile).

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