ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1306C>A (p.Pro436Thr)

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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 RCV004517605 SCV005028727 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-28 criteria provided, single submitter clinical testing The p.P436T variant (also known as c.1306C>A), located in coding exon 14 of the CDC73 gene, results from a C to A substitution at nucleotide position 1306. The proline at codon 436 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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