Submissions for variant NM_000546.6(TP53):c.558T>A (p.Asp186Glu)

dbSNP: rs375275361

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213742	SCV000273406	likely benign	Hereditary cancer-predisposing syndrome	2019-07-19	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.
GeneDx	RCV000235477	SCV000293834	likely benign	not provided	2019-05-09	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 10621852, 28861920, 16531411, 19748724, 24729566, 26206375, 29979965, 12826609, 30840781)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470622	SCV000545295	likely benign	Li-Fraumeni syndrome	2024-11-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000213742	SCV000903937	likely benign	Hereditary cancer-predisposing syndrome	2016-10-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000213742	SCV002582569	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002288848	SCV002582871	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing