ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.460G>A (p.Gly154Ser) (rs137852789)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206813 SCV000259695 uncertain significance Li-Fraumeni syndrome 2019-10-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 154 of the TP53 protein (p.Gly154Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs137852789, ExAC 0.002%). This variant has been reported in an individual affected with breast cancer (PMID: 28664506). ClinVar contains an entry for this variant (Variation ID: 133284). Experimental studies have shown that this missense change results in altered transcriptional transactivation activities compared to the wild-type protein, and has generally been classified as a partial deficiency allele (PMID: 12826609, 20407015). 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 RCV000573570 SCV000664404 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-15 criteria provided, single submitter clinical testing Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986050 SCV001134869 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Laboratory of Translational Genomics, National Cancer Institute RCV000119797 SCV000154269 not provided Sarcoma no assertion provided not provided

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