ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.332T>C (p.Leu111Pro)

dbSNP: rs1057519997
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459042 SCV000545305 uncertain significance Li-Fraumeni syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 111 of the TP53 protein (p.Leu111Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of TP53-related conditions (PMID: 32817165). ClinVar contains an entry for this variant (Variation ID: 376630). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 function with a positive predictive value of 97.5%. Experimental studies have shown that this missense change affects TP53 function (PMID: 12826609, 29979965, 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.
GeneDx RCV000480700 SCV000565622 likely pathogenic not provided 2023-04-06 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: loss of growth suppression and non-functional transcriptional activation activity (Kato et al., 2003; Kotler et al., 2018; Giacomelli et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual meeting Chompret criteria (Ozdemir et al., 2020); This variant is associated with the following publications: (PMID: 8934544, 7585578, 29979965, 16596195, 16000567, 12826609, 30224644, 15510160, Ozdemir2020[CaseReport], 32817165)
Myriad Genetics, Inc. RCV004022227 SCV004932441 likely pathogenic Li-Fraumeni syndrome 1 2024-02-13 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 29979965]. This variant is expected to disrupt protein structure [Myriad internal data].
Database of Curated Mutations (DoCM) RCV000441916 SCV000508812 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425579 SCV000508813 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435918 SCV000508814 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442239 SCV000508815 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425862 SCV000508816 likely pathogenic B-cell chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435274 SCV000508817 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417617 SCV000508818 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428739 SCV000508819 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785496 SCV000924068 likely pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research

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