ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.364G>A (p.Val122Met) (rs587781495)

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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 RCV000129460 SCV000184230 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000206482 SCV000259560 uncertain significance Li-Fraumeni syndrome 2017-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 122 of the TP53 protein (p.Val122Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. 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 disease. ClinVar contains an entry for this variant (Variation ID: 141101). An experimental study employing yeast-based transcriptional activity assays has shown that this missense change leads to a partially functional 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.
Color RCV000129460 SCV000908796 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000581285 SCV000692092 uncertain significance not specified no assertion criteria provided clinical testing

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