ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)

dbSNP: rs1553279088
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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 RCV000526998 SCV000636203 pathogenic Parathyroid carcinoma 2017-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 169 (p.Gln169*) of 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. This particular variant has been reported to segregate with hyperparathyroidism in one family (PMID: 24121387). For these reasons, this variant has been classified as Pathogenic.

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