Submissions for variant NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala)

gnomAD frequency: 0.00004  dbSNP: rs587781399

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129245	SCV000184004	benign	Hereditary cancer-predisposing syndrome	2024-02-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000507748	SCV000600461	uncertain significance	not provided	2021-04-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552536	SCV000635139	benign	Hereditary breast ovarian cancer syndrome	2023-02-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000129245	SCV001353452	uncertain significance	Hereditary cancer-predisposing syndrome	2019-06-17	criteria provided, single submitter	clinical testing
University of Washington Department of Laboratory Medicine, University of Washington	RCV000129245	SCV003849822	likely benign	Hereditary cancer-predisposing syndrome	2023-03-23	criteria provided, single submitter	curation	Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
BRCAlab, Lund University	RCV003493451	SCV004244159	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2020-03-02	no assertion criteria provided	clinical testing