ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.951_954del (p.Pro318fs)

dbSNP: rs1597359403
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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 RCV001019436 SCV001180794 pathogenic Hereditary cancer-predisposing syndrome 2018-11-14 criteria provided, single submitter clinical testing The c.951_954delGCCA pathogenic mutation, located in coding exon 8 of the TP53 gene, results from a deletion of 4 nucleotides at nucleotide positions 951 to 954, causing a translational frameshift with a predicted alternate stop codon (p.P318Rfs*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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