ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6323T>C (p.Leu2108Ser)

gnomAD frequency: 0.00006  dbSNP: rs756955122
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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 RCV001233322 SCV001405910 uncertain significance Familial acute necrotizing encephalopathy 2022-07-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 959890). 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 leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2108 of the RANBP2 protein (p.Leu2108Ser).

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