ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1105A>T (p.Thr369Ser)

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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 RCV004952624 SCV005553815 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-06 criteria provided, single submitter clinical testing The p.T369S variant (also known as c.1105A>T), located in coding exon 13 of the CDC73 gene, results from an A to T substitution at nucleotide position 1105. The threonine at codon 369 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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