ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)

dbSNP: rs2072835191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066845 SCV001231866 uncertain significance Li-Fraumeni syndrome 2019-12-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TP53-related conditions. 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. This variant has been reported to have conflicting or insufficient data to determine the effect on TP53 protein function (PMID: 12826609). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 382 of the TP53 protein (p.Lys382Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine.
Ambry Genetics RCV003160552 SCV003856779 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-07 criteria provided, single submitter clinical testing The p.K382T variant (also known as c.1145A>C), located in coding exon 10 of the TP53 gene, results from an A to C substitution at nucleotide position 1145. The lysine at codon 382 is replaced by threonine, an amino acid with similar properties. Studies conducted in human cell lines indicate this alteration is proficient at growth suppression and has no dominant negative effect (Giacomelli AO et al. Nat. Genet. 2018 Oct;50:1381-1387). This variant is reported to have partially functional transactivation in yeast based assays (Kato S et al. Proc Natl Acad Sci U S A, 2003 Jul;100:8424-9). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003467836 SCV004206235 uncertain significance Adrenocortical carcinoma, hereditary 2023-09-06 criteria provided, single submitter clinical testing

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