ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.605G>A (p.Arg202His) (rs587778719)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459232 SCV000545288 uncertain significance Li-Fraumeni syndrome 2019-04-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 202 of the TP53 protein (p.Arg202His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 135358). An experimental study in yeast has shown that this variant does not impair 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 RCV000567735 SCV000664400 likely benign Hereditary cancer-predisposing syndrome 2019-02-15 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Other data supporting benign classification;In silico models in agreement (benign)
Color RCV000567735 SCV000691603 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030735 SCV001193751 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
ITMI RCV000122175 SCV000086390 not provided not specified 2013-09-19 no assertion provided reference population

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