ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1190A>G (p.Asp397Gly)

gnomAD frequency: 0.00001  dbSNP: rs376733981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225974 SCV001398268 uncertain significance Familial acute necrotizing encephalopathy 2019-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 C15"). This variant is present in population databases (rs376733981, ExAC 0.006%). This sequence change replaces aspartic acid with glycine at codon 397 of the RANBP2 protein (p.Asp397Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.
Ambry Genetics RCV004659413 SCV005156726 uncertain significance not specified 2024-04-04 criteria provided, single submitter clinical testing The c.1190A>G (p.D397G) alteration is located in exon 9 (coding exon 9) of the RANBP2 gene. This alteration results from a A to G substitution at nucleotide position 1190, causing the aspartic acid (D) at amino acid position 397 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004695228 SCV005187845 uncertain significance not provided criteria provided, single submitter not provided

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