ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)

dbSNP: rs1558280170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049577 SCV001213634 pathogenic Parathyroid carcinoma 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg91*) 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 premature translational stop signal has been observed in individual(s) with hyperparathyroidism-jaw tumor syndrome (HPT-JT) or clinial features of HPT-JT (PMID: 22187299, 23293331, 25959515). ClinVar contains an entry for this variant (Variation ID: 846304). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198546 SCV001369524 pathogenic Hyperparathyroidism 1 2019-09-12 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310104 SCV001499637 pathogenic Familial cancer of breast 2020-04-02 criteria provided, single submitter clinical testing

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