ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1259G>C (p.Ser420Thr)

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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 RCV002412539 SCV002676094 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-04 criteria provided, single submitter clinical testing The p.S420T variant (also known as c.1259G>C), located in coding exon 14 of the CDC73 gene, results from a G to C substitution at nucleotide position 1259. The serine at codon 420 is replaced by threonine, 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.

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