ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.461G>A (p.Gly154Asp) (rs762846821)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231149 SCV000285197 uncertain significance Li-Fraumeni syndrome 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 154 of the TP53 protein (p.Gly154Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs762846821, ExAC 0.002%). This variant has not been reported as a germline change in the literature in individuals with TP53-related disease. ClinVar contains an entry for this variant (Variation ID: 237950). An experimental study in yeast has shown that this variant partially impairs the transcriptional transactivation activity of the TP53 protein (PMID: 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.
Ambry Genetics RCV000492535 SCV000581127 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-06 criteria provided, single submitter clinical testing Conflicting evidence
Color RCV000492535 SCV000686740 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-08 criteria provided, single submitter clinical testing
Counsyl RCV000662397 SCV000784812 uncertain significance Li-Fraumeni syndrome 1 2017-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764147 SCV000895132 uncertain significance Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 2018-10-31 criteria provided, single submitter clinical testing

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