ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.403T>C (p.Cys135Arg)

dbSNP: rs1057519975
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383908 SCV001583235 pathogenic Li-Fraumeni syndrome 2020-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect TP53 protein function (PMID: 12826609, 30224644). This variant has been observed in individual(s) with clinical features of Li Fraumeni disease (PMID: 31050713, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 376560). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 135 of the TP53 protein (p.Cys135Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.
Myriad Genetics, Inc. RCV004022200 SCV004930381 likely pathogenic Li-Fraumeni syndrome 1 2024-02-13 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant is expected to disrupt protein structure [Myriad internal data]. Functional studies indicate this variant impacts protein function [PMID: 29979965].
Database of Curated Mutations (DoCM) RCV000418091 SCV000507470 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430504 SCV000507471 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441192 SCV000507472 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423943 SCV000507473 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434656 SCV000507474 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440105 SCV000507475 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422903 SCV000507476 likely pathogenic Prostate adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433604 SCV000507477 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444995 SCV000507478 likely pathogenic Ovarian serous cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425388 SCV000507479 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432610 SCV000507480 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444209 SCV000507481 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426036 SCV000507482 likely pathogenic Adrenal cortex carcinoma 2016-05-31 no assertion criteria provided literature only

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