ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile)

dbSNP: rs769368705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548086 SCV000646842 uncertain significance Familial acute necrotizing encephalopathy 2022-01-14 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 469486). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 249 of the RANBP2 protein (p.Thr249Ile).
Ambry Genetics RCV003278901 SCV003972056 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.746C>T (p.T249I) alteration is located in exon 6 (coding exon 6) of the RANBP2 gene. This alteration results from a C to T substitution at nucleotide position 746, causing the threonine (T) at amino acid position 249 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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