ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.714del (p.Met237_Cys238insTer)

dbSNP: rs1555525537
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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 RCV000572072 SCV000664418 pathogenic Hereditary cancer-predisposing syndrome 2018-01-11 criteria provided, single submitter clinical testing The c.714delT pathogenic mutation, located in coding exon 6 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 714, causing a translational frameshift with a predicted alternate stop codon (p.C238*). 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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