ClinVar Miner

Submissions for variant NM_005762.3(TRIM28):c.2394G>T (p.Glu798Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002292228 SCV002584640 uncertain significance Wilms tumor 1 2022-09-20 criteria provided, single submitter clinical testing The TRIM28 c.2394G>T (p.Glu798Asp) missense change has a maximum subpopulation frequency of 0.025% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with a personal or family history of Wilms tumor. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV004047616 SCV003942226 uncertain significance not specified 2023-03-21 criteria provided, single submitter clinical testing The c.2394G>T (p.E798D) alteration is located in exon 17 (coding exon 17) of the TRIM28 gene. This alteration results from a G to T substitution at nucleotide position 2394, causing the glutamic acid (E) at amino acid position 798 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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