ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.95del (p.Leu32fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002385290 SCV002695689 pathogenic Hereditary cancer-predisposing syndrome 2022-05-23 criteria provided, single submitter clinical testing The c.95delT pathogenic mutation, located in coding exon 2 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 95, causing a translational frameshift with a predicted alternate stop codon (p.L32Rfs*12). 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.
Myriad Genetics, Inc. RCV004056948 SCV004933696 pathogenic Li-Fraumeni syndrome 1 2024-02-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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