ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.430del (p.Gln144fs)

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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 RCV002331953 SCV002627578 pathogenic Hereditary cancer-predisposing syndrome 2021-03-26 criteria provided, single submitter clinical testing The c.430delC pathogenic mutation, located in coding exon 4 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 430, causing a translational frameshift with a predicted alternate stop codon (p.Q144Sfs*26). 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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