ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.35A>G (p.Asn12Ser)

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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 RCV004952630 SCV005553828 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-24 criteria provided, single submitter clinical testing The p.N12S variant (also known as c.35A>G), located in coding exon 1 of the CDC73 gene, results from an A to G substitution at nucleotide position 35. The asparagine at codon 12 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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