ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.718A>G (p.Ser240Gly) (rs1567549584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709404 SCV000839115 likely pathogenic Li-Fraumeni syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000989712 SCV001140254 likely pathogenic Squamous cell carcinoma of the head and neck 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000709404 SCV001228935 uncertain significance Li-Fraumeni syndrome 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 240 of the TP53 protein (p.Ser240Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Li-Fraumeni syndrome (PMID: 27501770, 27391063). ClinVar contains an entry for this variant (Variation ID: 584921). This variant has been reported to affect TP53 protein function (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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