ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4952+4A>G

gnomAD frequency: 0.00001  dbSNP: rs962068207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003655047 SCV000653331 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023313 SCV001185172 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-01 criteria provided, single submitter clinical testing The c.4952+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 37 in the POLE gene. This nucleotide position is 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.
Fulgent Genetics, Fulgent Genetics RCV005010517 SCV005633690 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 2024-02-20 criteria provided, single submitter clinical testing

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