ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.283_285TCT[1] (p.Ser96del) (rs878854068)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230646 SCV000285183 uncertain significance Li-Fraumeni syndrome 2016-01-18 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 4 of the TP53 mRNA (c.286_288delTCT). This leads to the deletion of 1 amino acid residue in the TP53 protein (p.Ser96del) 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 a family affected with suspected Li-Fraumeni syndrome. Currently there is insufficient evidence to conclude whether this variant segregates with disease or not (PMID: 18511570). Functional studies regarding the potential impact that this in-frame deletion has on protein function have not been reported. In summary, this is a rare in-frame deletion with uncertain impact on protein function. In the absence of segregation or functional data, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000662816 SCV000785655 uncertain significance Li-Fraumeni syndrome 1 2017-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016810 SCV001177807 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing Insufficient evidence

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