ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.204C>G (p.His68Gln)

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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 RCV003177044 SCV003856476 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-17 criteria provided, single submitter clinical testing The p.H68Q variant (also known as c.204C>G), located in coding exon 2 of the CDC73 gene, results from a C to G substitution at nucleotide position 204. The histidine at codon 68 is replaced by glutamine, an amino acid with highly 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.

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