ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1093C>T (p.His365Tyr) (rs267605075)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129635 SCV000184430 uncertain significance Hereditary cancer-predisposing syndrome 2015-05-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Deficient protein function in appropriate functional assay(s),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000701624 SCV000830434 uncertain significance Li-Fraumeni syndrome 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 365 of the TP53 protein (p.His365Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs267605075, ExAC 0.002%). This variant has been reported in an individual affected with childhood soft tissue sarcoma (PMID: 12610779) and has also been reported to arise de novo in an individual affected with cancer (PMID: 17606709). ClinVar contains an entry for this variant (Variation ID: 80708). Experimental studies testing the transactivation activity of this missense change in TP53 have reported inconsistent results (PMID: 12826609, 21343334, 24256616). The clinical significance of these findings is unknown. 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.
True Health Diagnostics RCV000129635 SCV000788224 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-07 no assertion criteria provided clinical testing

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