ClinVar Miner

Submissions for variant NM_001330700.2(TOP2B):c.2366T>C (p.Ile789Thr)

gnomAD frequency: 0.00001  dbSNP: rs762212071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795604 SCV002034832 uncertain significance B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 2021-10-20 criteria provided, single submitter clinical testing The TOP2B c.2366T>C (p.Ile789Thr) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000093 in the European (Finnish) population of the Genome Aggregation Database, version 2.1.1, though this is based on two alleles in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence the p.Ile789Thr variant is classified as a variant of uncertain significance for B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome.
Invitae RCV003772185 SCV004655662 uncertain significance not provided 2023-08-07 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1328168). This variant has not been reported in the literature in individuals affected with TOP2B-related conditions. This variant is present in population databases (rs762212071, gnomAD 0.009%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 784 of the TOP2B protein (p.Ile784Thr).

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