ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.157G>T (p.Glu53Ter)

dbSNP: rs1675541893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245622 SCV001418923 pathogenic Parathyroid carcinoma 2022-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 970108). This premature translational stop signal has been observed in individual(s) with familial isolated primary hyperparathyroidism (PMID: 24716902). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu53*) 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).

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