ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.715C>G (p.Gln239Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003301790 SCV004003928 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-13 criteria provided, single submitter clinical testing The p.Q239E variant (also known as c.715C>G), located in coding exon 7 of the CDC73 gene, results from a C to G substitution at nucleotide position 715. The glutamine at codon 239 is replaced by glutamic acid, an amino acid with highly similar 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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