ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.910-5G>A

gnomAD frequency: 0.00002  dbSNP: rs750101293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985999 SCV001134765 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018856 SCV001180143 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing The c.910-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 10 in the POLE 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 acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000985999 SCV001771958 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Sema4, Sema4 RCV001018856 SCV002536952 likely benign Hereditary cancer-predisposing syndrome 2020-10-09 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268382 SCV002550197 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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