Submissions for variant NM_024675.4(PALB2):c.1281T>C (p.Ala427=)

gnomAD frequency: 0.00021  dbSNP: rs138697796

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212787	SCV000170869	benign	not specified	2014-04-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000127308	SCV000213168	likely benign	Hereditary cancer-predisposing syndrome	2014-09-05	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	RCV000206142	SCV000259459	likely benign	Familial cancer of breast	2024-01-27	criteria provided, single submitter	clinical testing
Counsyl	RCV000206142	SCV000488520	likely benign	Familial cancer of breast	2016-04-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000127308	SCV000911192	likely benign	Hereditary cancer-predisposing syndrome	2016-01-25	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800420	SCV002047285	likely benign	not provided	2023-08-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000212787	SCV002103991	likely benign	not specified	2022-02-28	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225411	SCV002504939	likely benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000127308	SCV002530599	likely benign	Hereditary cancer-predisposing syndrome	2021-07-19	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002498627	SCV002809671	likely benign	Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3	2022-04-25	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000206142	SCV004019617	benign	Familial cancer of breast	2023-03-31	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen	RCV001800420	SCV005329770	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	PALB2: BP4, BP7