ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.375+1G>C

dbSNP: rs1567555445
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004669145 SCV005094460 likely oncogenic Neoplasm 2025-03-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290471 SCV002583064 likely pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002256548 SCV002582403 likely pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256548 SCV002530452 likely pathogenic Hereditary cancer-predisposing syndrome 2021-05-06 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000822481 SCV000963287 pathogenic Li-Fraumeni syndrome 2024-04-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the TP53 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Li-Fraumeni syndrome (PMID: 7887414, 28681140; Invitae). ClinVar contains an entry for this variant (Variation ID: 664392). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Dr. Peter K. Rogan Lab, Western University RCV005902096 SCV006902805 not provided Ovarian serous cystadenocarcinoma no classification provided in vitro

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