ClinVar Miner

Submissions for variant NM_001330700.2(TOP2B):c.1639G>C (p.Glu547Gln)

dbSNP: rs1271271402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003991721 SCV004809876 uncertain significance B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 2024-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005103180 SCV005830555 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 542 of the TOP2B protein (p.Glu542Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TOP2B-related conditions. 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 RCV005281527 SCV005951450 uncertain significance not specified 2025-02-12 criteria provided, single submitter clinical testing The c.1624G>C (p.E542Q) alteration is located in exon 13 (coding exon 13) of the TOP2B gene. This alteration results from a G to C substitution at nucleotide position 1624, causing the glutamic acid (E) at amino acid position 542 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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