ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.569_571CTC[1] (p.Pro191del) (rs1555525902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557025 SCV000629843 uncertain significance Li-Fraumeni syndrome 2017-04-06 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 6 of the TP53 mRNA (c.572_574delCTC). This leads to the deletion of 1 amino acid residue in the TP53 protein (p.Pro191del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with colon cancer (PMID: 26425688). This variant is also known as c.571_573delCCT in the literature. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001024453 SCV001186472 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-21 criteria provided, single submitter clinical testing Insufficient evidence

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