ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.469G>T (p.Val157Phe) (rs121912654)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566103 SCV000667202 likely pathogenic Hereditary cancer-predisposing syndrome 2016-07-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Structural Evidence,Deficient protein function in appropriate functional assay(s),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
GeneKor MSA RCV000566103 SCV000821783 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785500 SCV000924072 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000794324 SCV000933724 uncertain significance Li-Fraumeni syndrome 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 157 of the TP53 protein (p.Val157Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with breast cancer or adrenocortical carcinoma (PMID: 15564800, 26580448, 29785153). ClinVar contains an entry for this variant (Variation ID: 12353). This variant has been reported to affect TP53 protein function (PMID: 9472631, 10713666, 16861262). An experimental study in yeast has shown that this variant 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.
OMIM RCV000013147 SCV000033394 pathogenic Hepatocellular carcinoma 1991-04-04 no assertion criteria provided literature only

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