ClinVar Miner

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

dbSNP: rs876659675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458707 SCV000545339 uncertain significance Li-Fraumeni syndrome 2024-06-12 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 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.

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