ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1148A>G (p.Asp383Gly)

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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 RCV003340342 SCV004058889 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-06 criteria provided, single submitter clinical testing The p.D383G variant (also known as c.1148A>G), located in coding exon 13 of the CDC73 gene, results from an A to G substitution at nucleotide position 1148. The aspartic acid at codon 383 is replaced by glycine, 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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