ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.347T>C (p.Ile116Thr)

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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 RCV004517619 SCV005028161 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-27 criteria provided, single submitter clinical testing The p.I116T variant (also known as c.347T>C), located in coding exon 4 of the CDC73 gene, results from a T to C substitution at nucleotide position 347. The isoleucine at codon 116 is replaced by threonine, an amino acid with 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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