ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.589G>A (p.Val197Met) (rs786204041)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167874 SCV000218520 uncertain significance Li-Fraumeni syndrome 2018-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 197 of the TP53 protein (p.Val197Met). 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 been reported in individuals with suspected Li-Fraumeni or Li-Fraumeni-like syndrome (PMID: 16494995, 25945745). ClinVar contains an entry for this variant (Variation ID: 188060). This sequence change disrupts TP53 protein function, and has been characterized in vitro as a partial deficiency TP53 allele (PMID: 21343334, 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.

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