Submissions for variant NM_024675.4(PALB2):c.195G>A (p.Pro65=)

gnomAD frequency: 0.00001  dbSNP: rs751176316

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164062	SCV000214672	likely benign	Hereditary cancer-predisposing syndrome	2014-10-20	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	RCV000204765	SCV000260146	likely benign	Familial cancer of breast	2025-01-11	criteria provided, single submitter	clinical testing
Counsyl	RCV000204765	SCV000488235	likely benign	Familial cancer of breast	2016-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000438495	SCV000514016	benign	not specified	2015-04-23	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.
Color Diagnostics, LLC DBA Color Health	RCV000164062	SCV000685911	likely benign	Hereditary cancer-predisposing syndrome	2017-06-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759183	SCV000888361	likely benign	not provided	2023-05-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505204	SCV002809398	likely benign	Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3	2021-10-03	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000204765	SCV004019146	benign	Familial cancer of breast	2023-03-30	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.
PreventionGenetics, part of Exact Sciences	RCV004535090	SCV004735400	likely benign	PALB2-related disorder	2020-01-06	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).