Submissions for variant NM_002691.4(POLD1):c.758+4C>T

gnomAD frequency: 0.00001  dbSNP: rs771346692

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704356	SCV000528597	likely benign	not provided	2019-03-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456508	SCV000547675	likely benign	Colorectal cancer, susceptibility to, 10	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564847	SCV000671109	uncertain significance	Hereditary cancer-predisposing syndrome	2020-02-26	criteria provided, single submitter	clinical testing	The c.758+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 5 in the POLD1 gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004533074	SCV004756070	likely benign	POLD1-related disorder	2023-08-09	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).