ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1158T>A (p.Phe386Leu)

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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 RCV004606753 SCV005100481 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-29 criteria provided, single submitter clinical testing The p.F386L variant (also known as c.1158T>A), located in coding exon 14 of the CDC73 gene, results from a T to A substitution at nucleotide position 1158. The phenylalanine at codon 386 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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