Submissions for variant NM_002691.4(POLD1):c.2717+11G>A

dbSNP: rs753506843

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000679500	SCV000572252	uncertain significance	not provided	2018-02-13	criteria provided, single submitter	clinical testing	This variant is denoted POLD1 c.2717+11G>A or IVS21+11G>A and consists of a G>A nucleotide substitution at the +11 position of intron 21 of the POLD1 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLD1 c.2717+11G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The guanine (G) nucleotide that is altered is not conserved across species. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, it is unclear whether POLD1 c.2717+11G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV000679500	SCV000806508	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002063806	SCV002385983	likely benign	Colorectal cancer, susceptibility to, 10	2025-01-22	criteria provided, single submitter	clinical testing