ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7892A>C (p.Asp2631Ala)

dbSNP: rs1677511241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350428 SCV001544828 uncertain significance Familial acute necrotizing encephalopathy 2020-05-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 2631 of the RANBP2 protein (p.Asp2631Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RANBP2-related conditions.
GeneDx RCV001773703 SCV002002921 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing Has not been previously reported in a human subjectas pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15388847)

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