ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn)

gnomAD frequency: 0.00021  dbSNP: rs377422691
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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 RCV000550452 SCV000646836 uncertain significance Familial acute necrotizing encephalopathy 2022-07-12 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 469481). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs377422691, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2356 of the RANBP2 protein (p.Asp2356Asn).
Ambry Genetics RCV004024087 SCV003940656 uncertain significance not specified 2023-05-26 criteria provided, single submitter clinical testing The c.7066G>A (p.D2356N) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a G to A substitution at nucleotide position 7066, causing the aspartic acid (D) at amino acid position 2356 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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