Submissions for variant NM_000546.6(TP53):c.246G>A (p.Pro82=)

gnomAD frequency: 0.00004  dbSNP: rs372397095

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164026	SCV000214631	likely benign	Hereditary cancer-predisposing syndrome	2014-09-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231385	SCV000285180	likely benign	Li-Fraumeni syndrome	2025-01-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164026	SCV000691586	likely benign	Hereditary cancer-predisposing syndrome	2016-04-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780791	SCV000918345	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001283867	SCV001469318	likely benign	not provided	2020-09-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001283867	SCV001916811	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164026	SCV002530438	likely benign	Hereditary cancer-predisposing syndrome	2021-04-11	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000164026	SCV002582271	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002288726	SCV002582931	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV002288726	SCV004015638	likely benign	Li-Fraumeni syndrome 1	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000231385	SCV004823826	likely benign	Li-Fraumeni syndrome	2023-12-13	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000780791	SCV005090284	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing