Submissions for variant NM_000546.6(TP53):c.618G>A (p.Leu206=)

gnomAD frequency: 0.00006  dbSNP: rs142813240

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162773	SCV000213250	likely benign	Hereditary cancer-predisposing syndrome	2014-10-23	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	RCV001079602	SCV000557355	likely benign	Li-Fraumeni syndrome	2025-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162773	SCV000686756	likely benign	Hereditary cancer-predisposing syndrome	2016-04-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588932	SCV000697442	likely benign	not specified	2019-08-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001711433	SCV001940210	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29979965)
Genetic Services Laboratory, University of Chicago	RCV000588932	SCV002070221	likely benign	not specified	2020-02-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000162773	SCV002582558	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002288714	SCV002582860	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711433	SCV002822357	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	TP53: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711433	SCV003799282	likely benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492665	SCV004239788	likely benign	Breast and/or ovarian cancer	2022-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952812	SCV004776944	likely benign	TP53-related disorder	2022-02-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).