ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.216del (p.Val73fs)

dbSNP: rs730882018
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492385 SCV000581149 pathogenic Hereditary cancer-predisposing syndrome 2017-09-21 criteria provided, single submitter clinical testing The c.216delC pathogenic mutation, located in coding exon 3 of the TP53 gene, results from a deletion of one nucleotide at nucleotide position 216, causing a translational frameshift with a predicted alternate stop codon (p.V73Wfs*50). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001382264 SCV001580945 pathogenic Li-Fraumeni syndrome 2020-02-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TP53-related conditions. ClinVar contains an entry for this variant (Variation ID: 428897). Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val73Trpfs*50) in the TP53 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).
Genome-Nilou Lab RCV000492385 SCV002582623 pathogenic Hereditary cancer-predisposing syndrome 2022-06-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002289676 SCV002583185 pathogenic Li-Fraumeni syndrome 1 2022-06-18 criteria provided, single submitter clinical testing
GeneDx RCV005241366 SCV005888991 pathogenic not provided 2024-09-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30774775, 34240179)
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785475 SCV000924047 pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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