ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5096C>T (p.Ser1699Phe)

dbSNP: rs1553496280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526599 SCV000646820 uncertain significance Familial acute necrotizing encephalopathy 2020-01-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RANBP2-related disease. This sequence change replaces serine with phenylalanine at codon 1699 of the RANBP2 protein (p.Ser1699Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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