ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1246G>T (p.Gly416Cys)

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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 RCV002394168 SCV002675229 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-17 criteria provided, single submitter clinical testing The p.G416C variant (also known as c.1246G>T), located in coding exon 14 of the CDC73 gene, results from a G to T substitution at nucleotide position 1246. The glycine at codon 416 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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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