ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.583A>T (rs942158624)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo RCV001270271 SCV001450487 pathogenic Malignant tumor of esophagus criteria provided, single submitter case-control
Invitae RCV001345722 SCV001539861 uncertain significance Li-Fraumeni syndrome 2018-03-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 195 of the TP53 protein (p.Ile195Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine 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 disease. ClinVar contains an entry for this variant (Variation ID: 376617). Experimental studies have shown that this missense change impairs the transcriptional transactivation activity and reduces the apoptotic activity of the TP53 protein in yeast and cell lines (PMID: 12826609, 23713777). A different missense substitution at this codon (p.Ile195Thr) has been determined to be pathogenic (PMID: 19405127, 19930417, 26534844, 12826609, Invitae). This suggests that the isoleucine residue is critical for TP53 protein function and that other missense substitutions at this position may also be pathogenic. 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) RCV000426791 SCV000508624 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433525 SCV000508625 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444892 SCV000508626 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426094 SCV000508627 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436319 SCV000508628 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418677 SCV000508629 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425266 SCV000508630 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435534 SCV000508631 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417891 SCV000508632 likely pathogenic Acute myeloid leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428137 SCV000508633 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438337 SCV000508634 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420717 SCV000508635 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430955 SCV000508636 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441219 SCV000508637 likely pathogenic Chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423573 SCV000508638 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433861 SCV000508639 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only

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