Submissions for variant NM_000546.6(TP53):c.383del (p.Pro128fs)

dbSNP: rs1597371666

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000816708	SCV000957227	pathogenic	Li-Fraumeni syndrome	2018-11-05	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This sequence change creates a premature translational stop signal (p.Pro128Leufs*42) 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). This variant has not been reported in the literature in individuals with TP53-related disease.
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo	RCV001270261	SCV001450475	pathogenic	Squamous cell carcinoma of the head and neck		criteria provided, single submitter	case-control
Genome-Nilou Lab	RCV002290463	SCV002582607	pathogenic	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002290462	SCV002583169	pathogenic	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV002290462	SCV004933232	pathogenic	Li-Fraumeni syndrome 1	2024-02-13	criteria provided, single submitter	clinical testing	This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca	RCV003483739	SCV004232084	uncertain significance	Prostate cancer, hereditary, 1	2024-01-01	no assertion criteria provided	clinical testing