ClinVar Miner

Submissions for variant NM_001126112.2(TP53):c.1177del (p.Asp393fs) (rs1555524083)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536567 SCV000629781 uncertain significance Li-Fraumeni syndrome 2019-12-27 criteria provided, single submitter clinical testing This sequence change results in a frameshift at the last codon 393, creating a new downstream translational stop signal (p.Asp393Thrfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the final amino acid of the TP53 protein and extend its length by 29 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TP53-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the additional amino acids at the very end of the C-terminal regulatory domain (residues 363-393) of the TP53 protein is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001010143 SCV001170297 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-04 criteria provided, single submitter clinical testing Insufficient evidence

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