ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.530_532dup (p.Pro177dup)

dbSNP: rs786202525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165373 SCV000216100 uncertain significance Hereditary cancer-predisposing syndrome 2014-07-21 criteria provided, single submitter clinical testing The c.530_532dupCCC variant located in coding exon 4 of the TP53 gene, results from a duplication of 3 nucleotides at positions 530 to 532 and the insertion of a proline residue at codon 178. The insertion of this proline will likely have a structurally destabilizing effect on the protein because it is located between C176 and H179; two residues necessary for binding the Zn+ molecule which stabilizes the p53 protein, however direct evidence is unavailable (Martin A et al. Hum. Mutat. 2002 Feb;19(2):149-64). Since supporting evidence is limited at this time, the clinical significance of c.530_532dupCCC remains unclear.

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