ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.215C>G (p.Pro72Arg)

gnomAD frequency: 0.62654  dbSNP: rs1042522
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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000079202 SCV000111071 benign not specified 2016-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132165 SCV000187242 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Color Health, Inc RCV000132165 SCV000292072 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079202 SCV000305114 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000144668 SCV000407071 benign Li-Fraumeni syndrome 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034639 SCV000605416 benign not provided 2022-02-24 criteria provided, single submitter clinical testing
IntelligeneCG RCV000144668 SCV000611723 benign Li-Fraumeni syndrome 1 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000300782 SCV000629789 benign Li-Fraumeni syndrome 2021-12-18 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000144668 SCV001440886 benign Li-Fraumeni syndrome 1 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000034639 SCV001940208 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17719241, 22289634, 23729685, 22703879, 18990008, 22524816, 20128691, 12459171, 19657731, 15138483, 21323870, 18426989, 15183530, 20587514, 18256523, 19789321, 15131588, 19837266, 18567547, 23210739, 22189267, 21038427, 20019240, 23073555, 20939739, 19357867, 19521721, 20886596, 21931130, 21454683, 21814224, 22336889, 19542078, 16258005, 11983757, 19657586, 11844595, 22367371, 21245379, 9891044, 17403527, 18583979, 12567188, 19171829, 19165225, 19639206, 21124037, 23207172, 21778786, 24728327, 21283750, 22545084, 24747975, 12826609, 19470478, 8625447, 23793604, 27153395, 25896519, 15609317, 23683469, 9607760)
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225263 SCV002505076 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
OMIM RCV000013144 SCV000033391 benign CODON 72 POLYMORPHISM 2009-10-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034639 SCV000043503 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000079202 SCV000086398 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144668 SCV000189999 uncertain significance Li-Fraumeni syndrome 1 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV000079202 SCV000692094 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000144668 SCV000733710 benign Li-Fraumeni syndrome 1 no assertion criteria provided clinical testing
Institute of Medical Sciences, Banaras Hindu University RCV001255631 SCV001432167 pathogenic Lip and oral cavity carcinoma 2019-04-30 no assertion criteria provided research
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000079202 SCV001905760 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000079202 SCV001928733 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079202 SCV001957163 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079202 SCV001974193 benign not specified no assertion criteria provided clinical testing

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