ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.764T>C (p.Ile255Thr)

dbSNP: rs876659675
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458707 SCV000545339 uncertain significance Li-Fraumeni syndrome 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 255 of the TP53 protein (p.Ile255Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with leukemia, thyroid cancer, and sarcoma (PMID: 29300620, 30709875). ClinVar contains an entry for this variant (Variation ID: 376623). 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. 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.
Database of Curated Mutations (DoCM) RCV000442535 SCV000508709 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424525 SCV000508710 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435232 SCV000508711 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420641 SCV000508712 likely pathogenic B-cell chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427837 SCV000508713 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437646 SCV000508714 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420356 SCV000508715 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only

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