Submissions for variant NM_000546.6(TP53):c.499_500del (p.Gln167fs)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003509831	SCV004296710	pathogenic	Li-Fraumeni syndrome	2023-12-24	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln167Alafs*13) in the TP53 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 22311583). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc.	RCV004364862	SCV004931620	pathogenic	Li-Fraumeni syndrome 1	2024-02-14	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	RCV003484920	SCV004232099	uncertain significance	Prostate cancer, hereditary, 1	2024-01-01	no assertion criteria provided	clinical testing