ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.754del (p.Leu252fs)

dbSNP: rs1555525470
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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 RCV000575325 SCV000672399 pathogenic Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing The c.754delC pathogenic mutation, located in coding exon 6 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 754, causing a translational frameshift with a predicted alternate stop codon (p.L252Sfs*93). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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