Submissions for variant NM_000546.6(TP53):c.510G>A (p.Thr170=)

gnomAD frequency: 0.00002  dbSNP: rs757544615

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164021	SCV000214626	likely benign	Hereditary cancer-predisposing syndrome	2014-12-26	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	RCV000230968	SCV000285200	likely benign	Li-Fraumeni syndrome	2024-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001704188	SCV000518405	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28664506, 29979965, 28861920)
Color Diagnostics, LLC DBA Color Health	RCV000164021	SCV000537447	likely benign	Hereditary cancer-predisposing syndrome	2015-11-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429905	SCV000918347	benign	not specified	2024-05-01	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000429905	SCV001469321	benign	not specified	2020-02-06	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164021	SCV002530465	likely benign	Hereditary cancer-predisposing syndrome	2022-01-12	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001704188	SCV002563381	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TP53: BP4, BP7
Genome-Nilou Lab	RCV000164021	SCV002582580	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002288725	SCV002582882	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV002288725	SCV004015629	benign	Li-Fraumeni syndrome 1	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000230968	SCV004823791	likely benign	Li-Fraumeni syndrome	2023-12-01	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000164021	SCV002050291	likely benign	Hereditary cancer-predisposing syndrome	2021-12-17	no assertion criteria provided	clinical testing