ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.701G>A (p.Arg234Gln)

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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 RCV003310132 SCV003998754 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing The p.R234Q variant (also known as c.701G>A), located in coding exon 7 of the CDC73 gene, results from a G to A substitution at nucleotide position 701. The arginine at codon 234 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012861 SCV005637178 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2024-05-25 criteria provided, single submitter clinical testing

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