Submissions for variant NM_002691.4(POLD1):c.1594G>A (p.Ala532Thr)

gnomAD frequency: 0.00003  dbSNP: rs765276497

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000464450	SCV000547553	likely benign	Colorectal cancer, susceptibility to, 10	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564396	SCV000671063	likely benign	Hereditary cancer-predisposing syndrome	2021-08-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV001311899	SCV001819350	likely benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as germline pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29056344, 27093186)
Sema4, Sema4	RCV000564396	SCV002534596	likely benign	Hereditary cancer-predisposing syndrome	2021-04-05	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003970284	SCV004783530	likely benign	POLD1-related condition	2023-07-09	criteria provided, single submitter	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).