ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.406A>T (p.Lys136Ter)

dbSNP: rs2103121703
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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 RCV001972723 SCV002245514 pathogenic Parathyroid carcinoma 2021-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys136*) 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 (ExAC no frequency). This variant has been observed in individual(s) with hyperparathyroidism-jaw tumor syndrome (PMID: 12434154). For these reasons, this variant has been classified as Pathogenic.

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