ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)

dbSNP: rs1677688362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002014473 SCV002232870 pathogenic Parathyroid carcinoma 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg399*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDC73-related conditions. ClinVar contains an entry for this variant (Variation ID: 1449272). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV002290811 SCV002579497 likely pathogenic Hyperparathyroidism 2 with jaw tumors 2021-08-23 criteria provided, single submitter clinical testing

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