ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.149T>C (p.Ile50Thr) (rs370502517)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197538 SCV000254627 uncertain significance Li-Fraumeni syndrome 2018-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 50 of the TP53 protein (p.Ile50Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with acute lymphoblastic leukemia (PMID: 26580448). ClinVar contains an entry for this variant (Variation ID: 216464). An experimental study in yeast has shown that this variant partially impairs the transcriptional transactivation activity of the TP53 protein (PMID: 12826609). 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.
Ambry Genetics RCV000220760 SCV000274284 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000662678 SCV000785386 uncertain significance Li-Fraumeni syndrome 1 2017-07-19 criteria provided, single submitter clinical testing

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