Submissions for variant NM_000546.6(TP53):c.*1175A>C

gnomAD frequency: 0.00849  dbSNP: rs78378222

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000412103	SCV000407042	benign	Li-Fraumeni syndrome 1	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Counsyl	RCV000412103	SCV000488853	uncertain significance	Li-Fraumeni syndrome 1	2016-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000492363	SCV000581112	likely benign	Hereditary cancer-predisposing syndrome	2015-07-29	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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000492363	SCV000679746	uncertain significance	Hereditary cancer-predisposing syndrome	2017-07-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002262575	SCV002545866	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	TP53: BS1, BS2
OMIM	RCV000029217	SCV000051863	risk factor	Basal cell carcinoma, susceptibility to, 7	2011-09-25	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003914864	SCV004728270	likely benign	TP53-related disorder	2024-05-02	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).