ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1285G>C (p.Asp429His)

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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 RCV002383172 SCV002689387 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-29 criteria provided, single submitter clinical testing The p.D429H variant (also known as c.1285G>C), located in coding exon 14 of the CDC73 gene, results from a G to C substitution at nucleotide position 1285. The aspartic acid at codon 429 is replaced by histidine, 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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