ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.1079G>T (p.Gly360Val) (rs35993958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131746 SCV000186787 likely benign Hereditary cancer-predisposing syndrome 2018-09-20 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign)
Invitae RCV000195550 SCV000254623 uncertain significance Li-Fraumeni syndrome 2019-12-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 360 of the TP53 protein (p.Gly360Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs35993958, ExAC 0.02%). This variant has been reported in a family with a pattern of cancer inheritance highly suggestive of Li Fraumeni syndrome (PMID: 27297285), as well as in an individual affected with breast cancer (PMID: 25503501). ClinVar contains an entry for this variant (Variation ID: 142552). Experimental studies have shown that this missense change does not appreciably affect TP53 protein function (PMID: 12826609, 27297285). 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.
GeneDx RCV000235356 SCV000292699 likely benign not specified 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000131746 SCV000691574 likely benign Hereditary cancer-predisposing syndrome 2015-04-20 criteria provided, single submitter clinical testing

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