ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1135G>T (p.Asp379Tyr)

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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 RCV004606765 SCV005100497 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-09 criteria provided, single submitter clinical testing The p.D379Y variant (also known as c.1135G>T), located in coding exon 13 of the CDC73 gene, results from a G to T substitution at nucleotide position 1135. The aspartic acid at codon 379 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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