ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1154A>G (p.Lys385Arg)

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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 RCV002363889 SCV002625769 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-27 criteria provided, single submitter clinical testing The p.K385R variant (also known as c.1154A>G), located in coding exon 13 of the CDC73 gene, results from a A to G substitution at nucleotide position 1154. The lysine at codon 385 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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