ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.920-1G>A (rs587781702)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129871 SCV000184688 pathogenic Hereditary cancer-predisposing syndrome 2017-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
GeneDx RCV000421521 SCV000516850 pathogenic not provided 2015-04-27 criteria provided, single submitter clinical testing The IVS8-1 G>A splice site variant in the TP53 gene has been previously reported in association with Li-Fraumeni syndrome (Wu et al., 2011). This substitution destroys the canonical splice acceptor site in intron 8, and is expected to cause abnormal gene splicing. Other splice site variants in exon 8 (IVS8+1 G>T, IVS8-1 G>T) have been reported in the Human Gene Mutation Database in association with TP53-related disease (Stenson et al., 2014), indicating this may be aregion of functional importance to the protein. The IVS8-1 G>A 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. Therefore, we interpret this variant as pathogenic.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785548 SCV000924120 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
MutSpliceDB: a database of splice sites variants effects on splicing,NIH RCV000421521 SCV000925709 not provided not provided no assertion provided in vitro

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