Submissions for variant NM_000546.6(TP53):c.66A>G (p.Leu22=)

dbSNP: rs748527030

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163369	SCV000213908	likely benign	Hereditary cancer-predisposing syndrome	2014-08-08	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	RCV000196762	SCV000254635	likely benign	Li-Fraumeni syndrome	2024-11-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000483133	SCV000565620	uncertain significance	not provided	2022-10-20	criteria provided, single submitter	clinical testing	Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23027126, 21317560, 26513723, 19160491, 24813712, 22264786, 21722702, 24343861, 26657150, 27776193, 24665023, 30252118, 31519161)
Color Diagnostics, LLC DBA Color Health	RCV000163369	SCV000686760	likely benign	Hereditary cancer-predisposing syndrome	2022-10-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000989728	SCV001140271	uncertain significance	Squamous cell carcinoma of the head and neck	2019-05-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174848	SCV001338233	likely benign	not specified	2020-02-29	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000196762	SCV004823861	likely benign	Li-Fraumeni syndrome	2024-03-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000483133	SCV005877577	likely benign	not provided	2024-07-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004745236	SCV005361207	likely benign	TP53-related disorder	2019-03-28	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).