Submissions for variant NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)

gnomAD frequency: 0.00005  dbSNP: rs979351702

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV003154592	SCV003843077	uncertain significance	Wilms tumor 1	2023-03-02	criteria provided, single submitter	clinical testing	The TRIM28 c.83G>T (p.Gly28Val) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/), however data at this position may not be reliable due to mean depth of coverage <30X. 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003548996	SCV004250326	uncertain significance	not provided	2024-01-30	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 28 of the TRIM28 protein (p.Gly28Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRIM28-related conditions. ClinVar contains an entry for this variant (Variation ID: 2444882). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.