ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.738G>T (p.Met246Ile)

dbSNP: rs1019340046
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243824 SCV001417007 uncertain significance Li-Fraumeni syndrome 2023-09-11 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Li-Fraumeni syndrome (PMID: 32817165). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 246 of the TP53 protein (p.Met246Ile). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 968639). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 12826609, 29979965, 30224644) indicates that this missense variant is expected to disrupt TP53 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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