ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.820G>T (rs1057520005)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001344689 SCV001538756 uncertain significance Li-Fraumeni syndrome 2020-07-09 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 274 of the TP53 protein (p.Val274Phe). The valine residue is highly 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 not been reported in the literature in individuals with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 376674). This variant has been reported to affect TP53 protein function (PMID: 12826609, 16741917, 27911860, 11920959, 30224644). 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.
Database of Curated Mutations (DoCM) RCV000435470 SCV000510002 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418237 SCV000510003 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428932 SCV000510004 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436116 SCV000510005 likely pathogenic Small cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418736 SCV000510006 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429450 SCV000510007 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440120 SCV000510008 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419355 SCV000510009 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430114 SCV000510010 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440773 SCV000510011 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423526 SCV000510012 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Institute of Medical Sciences, Banaras Hindu University RCV001255677 SCV001432242 pathogenic Lip and oral cavity carcinoma 2019-04-30 no assertion criteria provided research

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