ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1687-3T>G

gnomAD frequency: 0.00001  dbSNP: rs148115738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001569940 SCV000653078 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566851 SCV000671473 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing The c.1687-3T>G intronic variant results from a T to G substitution 3 nucleotides upstream from coding exon 16 in the POLE gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native 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 RCV001569940 SCV001794114 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005004231 SCV005633756 uncertain significance Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2024-04-11 criteria provided, single submitter clinical testing

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