ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.270T>A (p.Asp90Glu)

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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 RCV002437444 SCV002745007 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-17 criteria provided, single submitter clinical testing The p.D90E variant (also known as c.270T>A), located in coding exon 3 of the CDC73 gene, results from a T to A substitution at nucleotide position 270. The aspartic acid at codon 90 is replaced by glutamic acid, 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.

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