ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.828+2dup

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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 RCV002430244 SCV002679178 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-20 criteria provided, single submitter clinical testing The c.828+2dupT intronic variant, results from a T duplication 2 nucleotides after coding exon 8 of the CDC73 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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