ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.593A>T (p.Lys198Met)

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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 RCV003177053 SCV003856492 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-04 criteria provided, single submitter clinical testing The p.K198M variant (also known as c.593A>T), located in coding exon 7 of the CDC73 gene, results from an A to T substitution at nucleotide position 593. The lysine at codon 198 is replaced by methionine, an amino acid with 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.

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