ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2717+15G>A

gnomAD frequency: 0.00006  dbSNP: rs372493810
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478408 SCV000572159 uncertain significance not provided 2017-12-26 criteria provided, single submitter clinical testing This variant is denoted POLD1 c.2717+15G>A or IVS21+15G>A and consists of a G>A nucleotide substitution at the +15 position of intron 21 of the POLD1 gene. In silico models are inconclusive with respect to splicing and, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLD1 c.2717+15G>A was not observed at a significant allele frequency in large population cohorts (Lek 2016). The guanine (G) nucleotide that is altered is not conserved. Based on currently available information, it is unclear whether POLD1 c.2717+15G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001309720 SCV001499227 likely benign Colorectal cancer, susceptibility to, 10 2025-02-03 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001309720 SCV004171395 uncertain significance Colorectal cancer, susceptibility to, 10 2023-09-08 criteria provided, single submitter clinical testing The POLD1 c.2717+15G>A intronic change results in a G to A substitution at the +15 position of intron 21 of the POLD1 gene. Algorithms that predict the impact of sequence changes on splicing indicate that this change may impact splicing. This variant has a maximum subpopulation frequency of 0.015% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). To our knowledge, this variant has not been reported in the literature in individuals with POLD1-related disease. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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