ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.56_57del (p.Val19fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002884968 SCV003237658 pathogenic Parathyroid carcinoma 2022-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val19Glyfs*46) in the CDC73 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDC73 are known to be pathogenic (PMID: 12434154). For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. This variant is not present in population databases (gnomAD no frequency).

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