ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6749T>C (p.Val2250Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002369206 SCV002666982 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-21 criteria provided, single submitter clinical testing The p.V2250A variant (also known as c.6749T>C), located in coding exon 49 of the POLE gene, results from a T to C substitution at nucleotide position 6749. The valine at codon 2250 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003151891 SCV003840567 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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