ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.394_409del (p.Lys132fs)

dbSNP: rs786203589
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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 RCV000166969 SCV000217790 pathogenic Hereditary cancer-predisposing syndrome 2018-02-01 criteria provided, single submitter clinical testing The c.394_409del16 pathogenic mutation, located in coding exon 4 of the TP53 gene, results from a deletion of 16 nucleotides between positions 394 and 409, causing a translational frameshift with a predicted alternate stop codon (p.K132Wfs*33). 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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