ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.168del (p.Asp57fs)

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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 RCV003177171 SCV003856758 pathogenic Hereditary cancer-predisposing syndrome 2022-12-14 criteria provided, single submitter clinical testing The c.168delA pathogenic mutation, located in coding exon 3 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 168, causing a translational frameshift with a predicted alternate stop codon (p.D57Tfs*66). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. This nucleotide position is highly conserved in available vertebrate species.

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