ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.925C>T (p.Pro309Ser) (rs1555525012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574214 SCV000672390 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Intact protein function observed in appropriate functional assay(s)
Invitae RCV000537437 SCV000629887 uncertain significance Li-Fraumeni syndrome 2017-11-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 309 of the TP53 protein (p.Pro309Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with chronic myeloid leukemia, from a suspected Li-Fraumeni syndrome family (PMID: 15784129). Experimental studies have shown that this missense change does not affect the 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.

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