ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1048C>A (p.Pro350Thr)

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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 RCV004517599 SCV005028756 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-07 criteria provided, single submitter clinical testing The p.P350T variant (also known as c.1048C>A), located in coding exon 12 of the CDC73 gene, results from a C to A substitution at nucleotide position 1048. The proline at codon 350 is replaced by threonine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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