ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4862T>G (p.Val1621Gly)

gnomAD frequency: 0.00005  dbSNP: rs534387116
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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 RCV001762694 SCV001678263 likely benign not provided 2024-09-03 criteria provided, single submitter clinical testing
GeneDx RCV001762694 SCV002000599 uncertain significance not provided 2023-01-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002342066 SCV002639399 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-29 criteria provided, single submitter clinical testing The p.V1621G variant (also known as c.4862T>G), located in coding exon 37 of the POLE gene, results from a T to G substitution at nucleotide position 4862. The valine at codon 1621 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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