ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6844G>T (p.Ala2282Ser)

gnomAD frequency: 0.00001  dbSNP: rs762456750
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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 RCV000694990 SCV000823464 uncertain significance Familial acute necrotizing encephalopathy 2018-05-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 2282 of the RANBP2 protein (p.Ala2282Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RANBP2-related disease. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.

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