ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1418-1_1420del

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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 RCV004952635 SCV005553836 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-27 criteria provided, single submitter clinical testing The c.1418-1_1420delGTTA variant results from a deletion of 4 nucleotides between positions c.1418-1 and c.1420 and involves the canonical splice acceptor site before coding exon 16 of the CDC73 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site; however, the exact impact of this deletion on CDC73 splicing and function is currently unknown. This nucleotide region is highly conserved through mammals. Based on the available evidence, the clinical significance of this variant remains unclear.

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