ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1125G>T (p.Gln375His)

dbSNP: rs764011631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435987 SCV002754339 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-13 criteria provided, single submitter clinical testing The p.Q375H variant (also known as c.1125G>T), located in coding exon 10 of the TP53 gene, results from a G to T substitution at nucleotide position 1125. The glutamine at codon 375 is replaced by histidine, an amino acid with highly similar properties. This variant is reported to have partially functional transactivation in yeast based assays (Kato S et al. Proc. Natl. Acad. Sci. USA. 2003 Jul;100:8424-9). 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 amino acid position is not 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.

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