Submissions for variant NM_006231.4(POLE):c.3881G>A (p.Arg1294His)

gnomAD frequency: 0.00041  dbSNP: rs115455318

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000657091	SCV000289349	likely benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000657091	SCV000568921	uncertain significance	not provided	2024-03-13	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29360550, 27244218)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000485454	SCV000602037	uncertain significance	not specified	2017-02-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002258853	SCV002536827	likely benign	Hereditary cancer-predisposing syndrome	2021-05-03	criteria provided, single submitter	curation
Ambry Genetics	RCV002258853	SCV002619854	likely benign	Hereditary cancer-predisposing syndrome	2022-10-03	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000485454	SCV004027322	uncertain significance	not specified	2025-03-04	criteria provided, single submitter	clinical testing