ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1961T>A (p.Phe654Tyr)

gnomAD frequency: 0.00005  dbSNP: rs779026006
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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 RCV001217485 SCV001389327 uncertain significance Familial acute necrotizing encephalopathy 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 654 of the RANBP2 protein (p.Phe654Tyr). This variant is present in population databases (rs779026006, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 946589). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004671264 SCV005156724 uncertain significance not specified 2024-03-18 criteria provided, single submitter clinical testing The c.1961T>A (p.F654Y) alteration is located in exon 14 (coding exon 14) of the RANBP2 gene. This alteration results from a T to A substitution at nucleotide position 1961, causing the phenylalanine (F) at amino acid position 654 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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