ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3010A>G (p.Thr1004Ala)

gnomAD frequency: 0.00001  dbSNP: rs1264589423
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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 RCV000704892 SCV000833864 uncertain significance Familial acute necrotizing encephalopathy 2023-09-25 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. 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. ClinVar contains an entry for this variant (Variation ID: 581146). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1004 of the RANBP2 protein (p.Thr1004Ala).

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