ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.722_728del (p.Ser241fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474129 SCV004204244 likely pathogenic Adrenocortical carcinoma, hereditary 2023-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364799 SCV005036108 pathogenic Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The c.722_728delCCTGCAT pathogenic mutation, located in coding exon 6 of the TP53 gene, results from a deletion of 7 nucleotides at nucleotide positions 722 to 728, causing a translational frameshift with a predicted alternate stop codon (p.S241Wfs*4). 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.

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