ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.673-1G>A (rs878854073)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418491 SCV000516108 pathogenic not provided 2015-09-25 criteria provided, single submitter clinical testing The c.673-1 G>A splice site variant in the TP53 gene has been previously reported in association with Li-Fraumeni syndrome (Bougeard et al., 2001; Heitzer et al., 2013). This pathogenic variant destroys the canonical splice acceptor site in intron 6, and is expected to cause abnormal gene splicing. In addition, the c.673-1 G>A splice site variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations.
GeneKor MSA RCV000708630 SCV000821784 pathogenic Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000418491 SCV000925717 not provided not provided no assertion provided in vitro

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