ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.782+1G>T (rs1555525429)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587342 SCV000697447 likely pathogenic Li-Fraumeni syndrome 2016-12-22 criteria provided, single submitter clinical testing Variant summary: The TP53 c.782+1G>T variant involves the alteration of a conserved intronic nucleotide. Mutation taster predicts a damaging outcome for this variant along with 5/5 splice prediction tools predicting the variant to have an impact on normal splicing. The variant is absent in 121174 control chromosomes and to our knowledge, it was not reported in affected individuals with Li-Fraunemi syndrome, although several reports of its occurrence as a somatic driver mutation in patients with a wide variety of cancers such as osteosarcoma, breast cancer, thymic carcinoma and small cell lung carcinoma have been described. Taken together, this variant is classified as likely pathogenic.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785462 SCV000924034 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000786822 SCV000925715 not provided not provided no assertion provided in vitro

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