ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6531+5G>A

gnomAD frequency: 0.00013  dbSNP: rs368538240
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508040 SCV000602084 uncertain significance not specified 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001785646 SCV000653449 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567768 SCV000671287 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-16 criteria provided, single submitter clinical testing The c.6531+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 46 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 weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000544620 SCV000786485 uncertain significance Colorectal cancer, susceptibility to, 12 2018-05-09 criteria provided, single submitter clinical testing
GeneDx RCV001785646 SCV002027889 uncertain significance not provided 2025-02-07 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
Fulgent Genetics, Fulgent Genetics RCV002481633 SCV002785173 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 2021-08-12 criteria provided, single submitter clinical testing

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