ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.974G>A (p.Gly325Glu) (rs121912659)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566077 SCV000664929 likely benign Hereditary cancer-predisposing syndrome 2020-09-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s)
Color Health, Inc RCV000566077 SCV001339577 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-09 criteria provided, single submitter clinical testing
Invitae RCV001217424 SCV001389262 uncertain significance Li-Fraumeni syndrome 2020-05-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 325 of the TP53 protein (p.Gly325Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 480952). This variant has been reported not to substantially affect TP53 protein function (PMID: 16007150, 12826609). 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.

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