ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.470T>A (p.Val157Asp) (rs1131691023)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561132 SCV000667207 likely pathogenic Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Deficient protein function in appropriate functional assay(s)
Invitae RCV000807881 SCV000947957 uncertain significance Li-Fraumeni syndrome 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 157 of the TP53 protein (p.Val157Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with lung cancer and colon cancer in a family (PMID: 23981578). ClinVar contains an entry for this variant (Variation ID: 482231). This variant has been reported to affect TP53 protein function (PMID: 12826609), PMID 23981578). 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.

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