ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.415A>C (p.Lys139Gln)

dbSNP: rs1212996409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259224 SCV002530457 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-06 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094225 SCV003335119 uncertain significance Li-Fraumeni syndrome 2022-03-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 139 of the TP53 protein (p.Lys139Gln). This variant has not been reported in the literature in individuals affected with TP53-related conditions. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt TP53 protein function. 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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