Submissions for variant NM_002691.4(POLD1):c.429C>T (p.Gly143=)

gnomAD frequency: 0.00001  dbSNP: rs372244044

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001437001	SCV001639847	likely benign	Colorectal cancer, susceptibility to, 10	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000664285	SCV002626711	likely benign	Hereditary cancer-predisposing syndrome	2019-12-09	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.
True Health Diagnostics	RCV000664285	SCV000788148	uncertain significance	Hereditary cancer-predisposing syndrome	2017-10-25	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544924	SCV004761481	likely benign	POLD1-related disorder	2019-03-04	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).