ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.97-11C>G

dbSNP: rs769697802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000791519 SCV005918822 likely pathogenic Li-Fraumeni syndrome criteria provided, single submitter clinical testing
Baylor Genetics RCV003472330 SCV004204276 pathogenic Adrenocortical carcinoma, hereditary 2022-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000791519 SCV000930772 pathogenic Li-Fraumeni syndrome 2025-08-11 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the TP53 gene. It does not directly change the encoded amino acid sequence of the TP53 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with Li-Fraumeni syndrome (PMID: 11420676, 24382691, 28681140). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS3-11 C>G. ClinVar contains an entry for this variant (Variation ID: 638852). 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 RCV005901946 SCV006902878 not provided Uterine corpus endometrial carcinoma no classification provided in vitro

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