Submissions for variant NM_024675.4(PALB2):c.1431C>T (p.Thr477=)

gnomAD frequency: 0.00009  dbSNP: rs515726068

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000114474	SCV000253581	benign	Familial cancer of breast	2024-01-30	criteria provided, single submitter	clinical testing
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre	RCV000114474	SCV000268042	likely benign	Familial cancer of breast	2015-06-01	criteria provided, single submitter	case-control
Ambry Genetics	RCV000454223	SCV000538140	likely benign	Hereditary cancer-predisposing syndrome	2024-03-25	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.
Color Diagnostics, LLC DBA Color Health	RCV000454223	SCV000690784	likely benign	Hereditary cancer-predisposing syndrome	2016-04-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000859071	SCV000729367	likely benign	not provided	2020-04-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26283626, 23448497, 28664506, 23935836)
Counsyl	RCV000114474	SCV000786420	likely benign	Familial cancer of breast	2018-05-04	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000859071	SCV001134535	likely benign	not provided	2022-11-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000599737	SCV001372443	likely benign	not specified	2020-06-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000599737	SCV002067646	likely benign	not specified	2018-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000454223	SCV002530613	likely benign	Hereditary cancer-predisposing syndrome	2020-08-11	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000114474	SCV004019741	benign	Familial cancer of breast	2023-04-03	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.
Leiden Open Variation Database	RCV000114474	SCV001193103	likely benign	Familial cancer of breast	2019-05-13	no assertion criteria provided	curation	Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000859071	SCV001741048	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000859071	SCV001952928	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000859071	SCV001977617	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542812	SCV004785909	likely benign	PALB2-related disorder	2022-11-11	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).