ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.1120G>T (p.Gly374Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824393 SCV000965289 uncertain significance Li-Fraumeni syndrome 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 374 of the TP53 protein (p.Gly374Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TP53-related disease. An experimental study in yeast has shown that this variant does not impair the transcriptional transactivation activity of the 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.

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