ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.-47G>T

gnomAD frequency: 0.00003  dbSNP: rs1014146082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480674 SCV000572008 uncertain significance not provided 2018-02-02 criteria provided, single submitter clinical testing This variant is denoted POLE c.-47G>T and describes a nucleotide substitution 47 base pairs upstream of the ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the base that is substituted in braces, is GGGA[G/T]CGCG. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant does not affect the start codon or the Kozak translational consensus sequence. POLE c.-47G>T occurs at a position that is conserved in mammals. This variant was not observed in approximately 3,700 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Based on currently available evidence, it is unclear whether POLE c.-47G>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002475942 SCV002783410 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 2022-03-11 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493600 SCV004242571 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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