ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.978A>T (p.Glu326Asp)

dbSNP: rs1000256867
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321631 SCV001512468 uncertain significance Li-Fraumeni syndrome 2020-11-01 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. Experimental studies have shown that this variant does not substantially affect TP53 protein function (PMID: 12826609, 30224644). This variant has not been reported in the literature in individuals with TP53-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with aspartic acid at codon 326 of the TP53 protein (p.Glu326Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Baylor Genetics RCV003462894 SCV004206213 uncertain significance Adrenocortical carcinoma, hereditary 2023-10-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584893 SCV004359974 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-04 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with aspartic acid at codon 326 of the TP53 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function. Functional studies have shown that this variant to be functional in yeast transcriptional transactivation studies and human cell growth suppression assays (PMID: 12826609, 30224644). To our knowledge, this variant has not been reported in individuals affected with TP53-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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